(used for variant description)
(last modified December 26, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_014258.2 in the SYCP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering SYCP2 transcript NM_014258.2.
(upstream sequence)
. g.5019
atacacaatcatcatctta c.-121
. . . . . . g.5079
ctagttctctgtgttgctcgctaaccagtcccccagttcagtagactggagcccagagcc c.-61
. . | 02 . . . . g.14741
tgcttacttgtcag | gtgtttattttgtcttgctttttttttttttttaaatgaagtcaaa c.-1
. . | 03 . . . . g.15737
ATGCCAATAAGACCAGATCTCCAG | CAGTTGGAAAAATGCATTGATGATGCTTTAAGAAAA c.60
M P I R P D L Q | Q L E K C I D D A L R K p.20
. . . . . . g.15797
AATGATTTCAAACCTTTGAAAACACTTTTGCAAATTGATATTTGTGAAGATGTGAAGATT c.120
N D F K P L K T L L Q I D I C E D V K I p.40
. . . . | 04 . g.16679
AAATGCAGCAAACAGTTTTTCCACAAGGTGGACAACCTTATATGCAGG | GAACTTAATAAA c.180
K C S K Q F F H K V D N L I C R | E L N K p.60
. . . . . . g.16739
GAGGATATCCACAATGTTTCAGCCATTTTGGTTTCTGTTGGAAGATGTGGCAAAAATATC c.240
E D I H N V S A I L V S V G R C G K N I p.80
. . . . . | 05. g.17560
AGTGTATTGGGGCAAGCTGGACTTCTAACGATGATAAAACAAGGACTAATACAAAAG | ATG c.300
S V L G Q A G L L T M I K Q G L I Q K | M p.100
. . . . . . g.17620
GTTGCCTGGTTTGAAAAATCCAAGGACATTATTCAGAGTCAAGGAAATTCAAAAGATGAA c.360
V A W F E K S K D I I Q S Q G N S K D E p.120
. . . . | 06 . . g.17990
GCTGTTCTAAATATGATAGAAGACTTAGTTGATCTTCTGCTG | GTCATACATGATGTCAGT c.420
A V L N M I E D L V D L L L | V I H D V S p.140
| 07. . . . . . g.20636
GATGAAG | GTAAAAAACAAGTAGTGGAAAGTTTCGTACCTCGCATTTGTTCCCTGGTTATT c.480
D E G | K K Q V V E S F V P R I C S L V I p.160
. . . | 08 . . . g.21631
GACTCAAGAGTGAATATTTGTATTCAGCAAGAG | ATTATAAAAAAAATGAATGCTATGCTT c.540
D S R V N I C I Q Q E | I I K K M N A M L p.180
. . . . . | 09 g.21956
GACAAAATGCCTCAAGATGCCCGGAAAATACTCTCTAACCAAGAAATGTTAATTCTCAT | G c.600
D K M P Q D A R K I L S N Q E M L I L M | p.200
. . . | 10 . . . g.22929
AGTAGTATGGGAGAAAGGATTTTAGATGCTGGAG | ATTATGACTTACAGGTAGGCATTGTA c.660
S S M G E R I L D A G D | Y D L Q V G I V p.220
. . . . . . g.22989
GAAGCTTTGTGTAGAATGACCACAGAAAAACAAAGACAAGAACTGGCACATCAGTGGTTT c.720
E A L C R M T T E K Q R Q E L A H Q W F p.240
. . . . . | 11. g.23130
TCAATGGATTTTATTGCTAAGGCATTTAAAAGAATTAAGGACTCTGAATTTGAAACA | GAT c.780
S M D F I A K A F K R I K D S E F E T | D p.260
. . . . . | 12 . g.24746
TGCAGGATATTTCTCAACCTTGTAAATGGCATGCTTGGAGACAAAAGAAG | GGTCTTTACA c.840
C R I F L N L V N G M L G D K R R | V F T p.280
. . . | 13 . . . g.25333
TTTCCTTGTTTATCAGCATTTCTTGATAAATATGAG | CTGCAAATACCATCAGATGAAAAA c.900
F P C L S A F L D K Y E | L Q I P S D E K p.300
. . . . . . g.25393
CTTGAGGAATTTTGGATTGATTTTAATCTTGGGAGTCAGACTCTCTCATTCTACATTGCT c.960
L E E F W I D F N L G S Q T L S F Y I A p.320
. | 14 . . . . . g.29778
GGAGATAATGAT | GATCATCAATGGGAAGCAGTTACTGTGCCAGAGGAAAAAGTACAAATA c.1020
G D N D | D H Q W E A V T V P E E K V Q I p.340
. | 15 . . . . . g.35391
TACAGCATTGAAG | TGAGAGAATCAAAGAAGCTACTGACAATAATTCTGAAAAATACAGTA c.1080
Y S I E V | R E S K K L L T I I L K N T V p.360
. . . . . . g.35451
AAAATTAGCAAAAGAGAAGGGAAAGAATTGCTTTTGTATTTTGACGCATCACTAGAAATC c.1140
K I S K R E G K E L L L Y F D A S L E I p.380
. . . . | 16 . . g.36354
ACTAATGTAACTCAAAAAATTTTTGGTGCAACTAAACATAGG | GAATCTATCAGAAAACAA c.1200
T N V T Q K I F G A T K H R | E S I R K Q p.400
. . . . . | 17. g.36873
GGTATTTCAGTTGCCAAAACGTCGCTGCATATACTTTTTGACGCAAGTGGATCACAG | ATT c.1260
G I S V A K T S L H I L F D A S G S Q | I p.420
. . . . . . g.36933
CTAGTGCCAGAAAGTCAAATCTCACCAGTCGGAGAAGAGCTCGTTAGTTTAAAGGAAAAA c.1320
L V P E S Q I S P V G E E L V S L K E K p.440
. . . . . . g.36993
TCAAAGTCCCCAAAGGAATTTGCTAAACCTTCAAAATATATCAAAAACAGTGACAAAGGG c.1380
S K S P K E F A K P S K Y I K N S D K G p.460
. . | 18 . . . . g.40662
AATAGAAATAATAGTCAGCTTGAG | AAAACTACTCCTAGCAAAAGAAAAATGTCTGAAGCA c.1440
N R N N S Q L E | K T T P S K R K M S E A p.480
. . . . . . g.40722
TCAATGATTGTTTCTGGTGCAGATAGATACACTATGAGAAGTCCAGTGCTTTTCAGCAAC c.1500
S M I V S G A D R Y T M R S P V L F S N p.500
| 19 . . . . . . g.41613
ACAT | CAATACCACCACGAAGAAGAAGAATTAAACCACCACTGCAAATGACGAGCTCTGCA c.1560
T S | I P P R R R R I K P P L Q M T S S A p.520
. . . . . . g.41673
GAGAAACCTAGTGTTTCTCAAACATCAGAAAATAGAGTGGATAATGCTGCATCACTGAAA c.1620
E K P S V S Q T S E N R V D N A A S L K p.540
. . . . | 20 . . g.43576
TCTAGATCATCAGAAGGAAGACATAGAAGAGATAATATAGACAAA | CATATCAAAACTGCT c.1680
S R S S E G R H R R D N I D K | H I K T A p.560
. . . . . | 21 . g.43960
AAGTGTGTAGAAAACACAGAAAATAAGAATGTTGAATTCCCAAACCAAAATTTTA | GTGAA c.1740
K C V E N T E N K N V E F P N Q N F S | E p.580
. . . . . | 22 . g.44460
CTCCAGGATGTTATACCAGATTCACAGGCAGCGGAAAAAAGAGATCATACTAT | ATTACCT c.1800
L Q D V I P D S Q A A E K R D H T I | L P p.600
. . . . . . g.44520
GGTGTTTTAGACAACATCTGTGGAAATAAAATACACAGCAAATGGGCATGTTGGACACCT c.1860
G V L D N I C G N K I H S K W A C W T P p.620
. . . . . . g.44580
GTAACAAACATTGAACTATGTAATAACCAAAGAGCAAGTACTTCGTCAGGAGACACATTG c.1920
V T N I E L C N N Q R A S T S S G D T L p.640
| 23. . . . . . g.44781
AATCAAG | ATATTGTTATAAATAAAAAACTTACTAAACAAAAATCATCCTCTTCAATATCT c.1980
N Q D | I V I N K K L T K Q K S S S S I S p.660
. . . . . . g.44841
GATCATAATTCTGAAGGAACAGGAAAAGTGAAATATAAGAAAGAACAAACCGACCATATC c.2040
D H N S E G T G K V K Y K K E Q T D H I p.680
. . . . . . g.44901
AAAATAGATAAAGCAGAAGTAGAAGTTTGCAAGAAACACAATCAGCAACAAAATCATCCT c.2100
K I D K A E V E V C K K H N Q Q Q N H P p.700
. . . . . . g.44961
AAATATTCAGGGCAGAAAAATACTGAAAATGCCAAGCAGAGTGATTGGCCTGTTGAATCT c.2160
K Y S G Q K N T E N A K Q S D W P V E S p.720
. . . . . . g.45021
GAAACTACTTTTAAATCGGTTCTCCTAAATAAGACAATTGAAGAATCGCTGATATATAGG c.2220
E T T F K S V L L N K T I E E S L I Y R p.740
. . . . . . g.45081
AAGAAATACATATTGTCAAAAGATGTGAATACTGCTACTTGCGATAAAAATCCATCTGCT c.2280
K K Y I L S K D V N T A T C D K N P S A p.760
. . . . . . g.45141
AGCAAAAATGTGCAAAGTCATAGAAAAGCAGAGAAAGAATTGACTTCTGAGCTTAATTCC c.2340
S K N V Q S H R K A E K E L T S E L N S p.780
. . | 24 . . . . g.50356
TGGGATTCGAAACAAAAAAAAATG | AGAGAAAAGTCAAAAGGGAAAGAATTTACCAATGTA c.2400
W D S K Q K K M | R E K S K G K E F T N V p.800
. . . . . . g.50416
GCAGAATCCTTGATAAGCCAAATCAATAAAAGATACAAAACAAAAGATGACATCAAGTCT c.2460
A E S L I S Q I N K R Y K T K D D I K S p.820
. . . | 25 . . . g.51218
ACAAGAAAATTAAAGGAGTCTTTGATTAACAG | TGGTTTTTCAAACAAACCTGTTGTACAA c.2520
T R K L K E S L I N S | G F S N K P V V Q p.840
| 26 . . . . . g.55040
CTCAGTAAG | GAAAAAGTTCAGAAAAAAAGCTACAGAAAACTGAAGACTACCTTTGTTAAT c.2580
L S K | E K V Q K K S Y R K L K T T F V N p.860
. . | 27 . . . . g.55192
GTTACTTCTGAATGCCCAGT | GAATGATGTTTACAATTTTAATTTGAATGGAGCTGATGAC c.2640
V T S E C P V | N D V Y N F N L N G A D D p.880
. | 28 . . . . g.55704
CCTATCATAAAACTTGGA | ATCCAAGAGTTTCAAGCTACAGCTAAAGAAGCTTGTGCGGAT c.2700
P I I K L G | I Q E F Q A T A K E A C A D p.900
. | 29 . . . . . g.56177
AGGTCAATTAGATT | GGTAGGTCCAAGGAATCATGATGAACTTAAATCTTCTGTCAAAACA c.2760
R S I R L | V G P R N H D E L K S S V K T p.920
. | 30 . . . . . g.56731
AAAGATAAAAAA | ATTATAACAAATCATCAAAAGAAAAATCTGTTTAGTGATACTGAAACA c.2820
K D K K | I I T N H Q K K N L F S D T E T p.940
. . . . . . g.56791
GAGTACAGATGTGATGACAGCAAGACTGATATTAGCTGGCTAAGAGAACCGAAATCAAAA c.2880
E Y R C D D S K T D I S W L R E P K S K p.960
. . . . . . g.56851
CCACAGCTAATAGACTATAGCAGAAATAAAAATGTGAAGAATCATAAAAGTGGAAAATCA c.2940
P Q L I D Y S R N K N V K N H K S G K S p.980
| 31 . . . | 32 . . g.59620
A | GATCATCCTTGGAAAAGGGACAGCCAAGCTCTAAAATG | ACACCCAGTAAAAATATCACA c.3000
R | S S L E K G Q P S S K M | T P S K N I T p.1000
. . . . . . g.59680
AAAAAGATGGACAAGACAATTCCGGAAGGAAGAATCAGACTTCCACGAAAAGCAACCAAA c.3060
K K M D K T I P E G R I R L P R K A T K p.1020
. . . . . . g.59740
ACAAAAAAAAACTATAAAGATCTCTCAAATTCAGAATCAGAGTGTGAACAAGAATTTTCA c.3120
T K K N Y K D L S N S E S E C E Q E F S p.1040
. . . | 33 . . . g.61715
CATTCATTTAAAGAGAACATACCAGTAAAG | GAGGAGAATATCCATTCCAGAATGAAAACG c.3180
H S F K E N I P V K | E E N I H S R M K T p.1060
. . . . . . g.61775
GTAAAGCTACCAAAGAAACAACAGAAAGTCTTCTGTGCTGAAACAGAAAAGGAACTATCA c.3240
V K L P K K Q Q K V F C A E T E K E L S p.1080
. . . . . . g.61835
AAACAATGGAAAAACTCATCTCTACTAAAAGATGCTATACGAGATAATTGCCTTGACTTA c.3300
K Q W K N S S L L K D A I R D N C L D L p.1100
. . . . | 34 . g.63104
TCTCCCAGATCTTTATCTGGCAGTCCATCATCTATAGAAGTAACGAGAT | GTATAGAGAAA c.3360
S P R S L S G S P S S I E V T R C | I E K p.1120
. . . . . . g.63164
ATAACAGAAAAGGATTTTACTCAGGATTATGACTGCATAACAAAATCTATATCACCTTAT c.3420
I T E K D F T Q D Y D C I T K S I S P Y p.1140
. . . . . . g.63224
CCAAAAACTTCATCACTTGAATCCTTAAATAGTAACAGTGGAGTTGGAGGTACAATAAAG c.3480
P K T S S L E S L N S N S G V G G T I K p.1160
. . . . . . g.63284
TCACCCAAAAACAATGAGAAAAACTTCCTGTGTGCAAGTGAAAGTTGTTCACCAATTCCA c.3540
S P K N N E K N F L C A S E S C S P I P p.1180
. | 35 . . . . . g.67216
CGACCACTGTTTTTG | CCCAGACATACTCCAACTAAGAGTAATACTATTGTAAATAGAAAA c.3600
R P L F L | P R H T P T K S N T I V N R K p.1200
. . . . . . g.67276
AAAATAAGTTCTCTGGTACTTACACAAGAAACACAAAACAGTAACAGCTATTCAGATGTA c.3660
K I S S L V L T Q E T Q N S N S Y S D V p.1220
. . . . . . g.67336
AGCAGTTATAGTTCAGAAGAACGGTTTATGGAAATTGAATCTCCACATATCAATGAAAAT c.3720
S S Y S S E E R F M E I E S P H I N E N p.1240
. . | 36 . . . . g.68268
TATATACAAAGCAAAAGAGAG | GAAAGTCATTTAGCATCTTCATTATCCAAGTCTAGTGAA c.3780
Y I Q S K R E | E S H L A S S L S K S S E p.1260
. . . . . | 37 . g.68594
GGAAGAGAGAAAACGTGGTTTGACATGCCCTGTGATGCTACTCATGTATCAG | GCCCCACC c.3840
G R E K T W F D M P C D A T H V S G | P T p.1280
. . . . . . g.68654
CAACATCTTAGTCGCAAAAGAATATATATAGAAGATAATCTAAGTAATTCCAATGAAGTA c.3900
Q H L S R K R I Y I E D N L S N S N E V p.1300
. . . . . . g.68714
GAAATGGAAGAGAAAGGAGAAAGGAGAGCAAACTTGCTTCCCAAAAAACTGTGTAAAATT c.3960
E M E E K G E R R A N L L P K K L C K I p.1320
. . | 38 . . . g.69339
GAAGATGCAGATCATCATATCCACAAAA | TGTCTGAAAGTGTATCTTCATTATCAACAAAT c.4020
E D A D H H I H K M | S E S V S S L S T N p.1340
. . . . . . g.69399
GACTTTTCTATTCCTTGGGAGACCTGGCAAAATGAATTTGCAGGGATAGAGATGACTTAT c.4080
D F S I P W E T W Q N E F A G I E M T Y p.1360
. . . . | 39 . . g.70580
GAGACTTACGAGAGGCTCAATTCAGAATTTAAGAGAAGGAATAAT | ATCCGACATAAAATG c.4140
E T Y E R L N S E F K R R N N | I R H K M p.1380
. . . . . . g.70640
TTGAGTTATTTTACTACGCAGTCTTGGAAAACAGCTCAGCAACATCTGAGAACAATGAAT c.4200
L S Y F T T Q S W K T A Q Q H L R T M N p.1400
. . | 40 . . . . g.70802
CATCAAAGTCAGGACTCTAG | GATTAAAAAACTTGATAAATTCCAATTCATTATCATAGAG c.4260
H Q S Q D S R | I K K L D K F Q F I I I E p.1420
. . . . . . g.70862
GAGCTGGAGAATTTTGAAAAAGATTCACAGTCTTTAAAAGATTTGGAAAAGGAATTTGTG c.4320
E L E N F E K D S Q S L K D L E K E F V p.1440
| 41 . . . . . | 42 g.71504
| GACTTTTGGGAAAAGATATTTCAGAAGTTCAGTGCATATCAAAAAAGCGAACAACAGAG | G c.4380
| D F W E K I F Q K F S A Y Q K S E Q Q R | p.1460
. . . . . . g.71564
CTTCATCTTTTGAAAACTTCATTGGCTAAAAGTGTCTTCTGTAATACTGATAGTGAAGAA c.4440
L H L L K T S L A K S V F C N T D S E E p.1480
. | 43 . . . . g.71752
ACTGTTTTTACATCCGAG | ATGTGTTTGATGAAAGAAGATATGAAAGTGCTGCAAGACAGG c.4500
T V F T S E | M C L M K E D M K V L Q D R p.1500
. | 44 . . . . . g.72811
CTTCTTAAGGACATG | CTAGAAGAGGAGCTTCTTAATGTACGCAGAGAACTGATGTCAGTA c.4560
L L K D M | L E E E L L N V R R E L M S V p.1520
. . . g.72844
TTCATGTCTCATGAAAGAAATGCTAATGTGTGA c.4593
F M S H E R N A N V X p.1530
. . . . . . g.72904
aatctagtttttatcaccatactttatctaattattattctctgtatataactgaggaaa c.*60
. . . . . . g.72964
taagaatagtcctacaaagagaaaaatatacatgtcaccgaagcaagtgtaccctttata c.*120
. . . . . . g.73024
ggaaccctcaaattaaaaaaaaatgtcttttaatggatgagagggaaccactataacatg c.*180
. . . . . . g.73084
agtccaagcccagaagacttctgtctatacaatatttttttttaattttggagataaaag c.*240
. . . . . . g.73144
ctttaagaaactttttgagttaattatactcataaaatgagtttctttaataaattaaat c.*300
. . . . . . g.73204
tttattgtgtaaaatgtattattacataaaatgtgtttttgaatcaatgcagtttgggga c.*360
. . . . . . g.73264
tgaatataattaaaatatgtttaataacttagaattcaactaataaaaatttagccacac c.*420
. . . . . . g.73324
ttacaagggggaggaagtccctagtttaaaatgtataactgagtggtagatcagtacttt c.*480
. . . . . . g.73384
cagcacactgttggaaacatttattcagatatggctctaatgtattaggaagcactaaat c.*540
. . . . . . g.73444
ggcctaaaaaagctactacattgcctaaatatgttaattcaatatagaagtcctatttca c.*600
. . . . . . g.73504
taaccaggctgtttgacaaatacttttaatctagtagtcattgtaatatcttgctagatt c.*660
. . . . . . g.73564
aatttataaaaatgagtatacatttgatttgcttttaatgaagttgaaataaatgcttat c.*720
. . g.73592
gtcacttgaataaatataaatcattata c.*748
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 22
©2004-2019 Leiden University Medical Center