(used for variant description)
(last modified October 28, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_025184.3 in the EFHC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021391.1, covering EFHC2 transcript NM_025184.3.
(upstream sequence)
. . g.5029
aacgtgggggccaaacaacacggccggga c.-61
. . . . . . g.5089
ggcgccgctgcctgccgggccctctcttctgggaccctggattttcggacactgagcgcc c.-1
. . . . | 02 . . g.35939
ATGGCCCTGCCTCTGCTGCCGGGCAACAGCTTCAACCGCAAC | GTGGGAAAGGAGAAGTTT c.60
M A L P L L P G N S F N R N | V G K E K F p.20
. . . . . . g.35999
CACAAATCCCAACATTGGGGCTTTTGCAACAATGTTATGATGTTGGTGAGTGATGAAAAG c.120
H K S Q H W G F C N N V M M L V S D E K p.40
. . . . . . g.36059
CCTGGAATAGGTGGAGAACCACTTCTGGGGCAAAAGATAAAGCCTAAATGTAGCATATAT c.180
P G I G G E P L L G Q K I K P K C S I Y p.60
. . . . . | 03 . g.75850
CCTAAAGGAGATGGAAGTGATGTACCATCATGGGTAGCCTTTGATAAACAG | GTATTATCT c.240
P K G D G S D V P S W V A F D K Q | V L S p.80
. . . . . . g.75910
TTTGATGCCTATTTGGAAGAGGAAGTACTTGATAAAAGCCAAACCAACTACAGAATAAGA c.300
F D A Y L E E E V L D K S Q T N Y R I R p.100
. . . . . . g.75970
TACTATAAAATCTACTTCTACCCTGAAGATGACACAATTCAAGTAAATGAACCAGAGGTG c.360
Y Y K I Y F Y P E D D T I Q V N E P E V p.120
. . | 04 . . . . g.87417
AAAAATAGTGGATTACTTCAAG | GGACTTCTATCCGGCGTCATCGGATTACTCTTCCGCCT c.420
K N S G L L Q G | T S I R R H R I T L P P p.140
. . . . . . g.87477
CCTGATGAGGATCAGTTTTATACTGTGTATCATTTTAATGTCGGCACAGAGGTTGTCTTC c.480
P D E D Q F Y T V Y H F N V G T E V V F p.160
. . . . . . g.87537
TATGGCCGGACATTCAAGATTTATGACTGTGATGCATTCACAAGAAACTTTTTGAGGAAA c.540
Y G R T F K I Y D C D A F T R N F L R K p.180
. . . . . . g.87597
ATAGGGGTCAAAGTGAATCCCCCAGTGCAATGTCCAGAAGATCCTTACATGAAGATTCGG c.600
I G V K V N P P V Q C P E D P Y M K I R p.200
| 05 . . . . . . g.98286
AGAGAG | GTTGTAGAACACGTAGAGCCCTTACGTCCCTACGAATCCCTCGACACCCTGAAA c.660
R E | V V E H V E P L R P Y E S L D T L K p.220
. . . . . . g.98346
CAGTTCCTCCAGTATCATGGCAAGATTTTGTGTTTCTTCTGCCTGTGGGATGACTCAGTC c.720
Q F L Q Y H G K I L C F F C L W D D S V p.240
. . . . . . g.98406
TCAATGTTTGGAGACCGTAGAGAACTCATCCTGCATTACTTCTTGTGTGATGATACTATT c.780
S M F G D R R E L I L H Y F L C D D T I p.260
. . . . . . g.98466
GAAATCAAAGAATTGCTTCCACACAGCTCAGGCCGAGATGCTCTAAAAATGTTCCTCCGG c.840
E I K E L L P H S S G R D A L K M F L R p.280
. | 06 . . . . g.99803
AGGAGTAAGCTACCCAAG | AATTGCCCACCTAGAGTCTATCAACCAGGCCAGATAACAGAT c.900
R S K L P K | N C P P R V Y Q P G Q I T D p.300
. . . . . . g.99863
CGAGCAGTTCTCAATTCATATGGTGACTTTATAAAGAACCAAGCGGATGGCTACCTGTTC c.960
R A V L N S Y G D F I K N Q A D G Y L F p.320
. | 07 . . . . . g.100315
GATAGATATAAG | CTAGGAAAAGTAGACCAAGAGTTTTACAAAGATAGTGACCTGTCCCTA c.1020
D R Y K | L G K V D Q E F Y K D S D L S L p.340
. . . . . . g.100375
GGAGTCACCATCAATGTGTGGGGAAGAAAAGTGCTCCTTTATGACTGTGATGAATTTACG c.1080
G V T I N V W G R K V L L Y D C D E F T p.360
. . . | 08 . . . g.106417
AAGTCTTATTATAAGTCTAAATATGGAATTG | AGAACTTTACCTCAGTTTCATGCAAGCCT c.1140
K S Y Y K S K Y G I E | N F T S V S C K P p.380
. . . . . . g.106477
CCTTCTCCTCCTCCAAAAATAGAAAGGAAATTTCCACCTTACAACGGTTTTGGTTCTGAA c.1200
P S P P P K I E R K F P P Y N G F G S E p.400
. . . . . . g.106537
GAGGATTCTCTCCGTAACTGCATAGACCTCAAGCCCACACCTCATCGGAGGAACTTCAAG c.1260
E D S L R N C I D L K P T P H R R N F K p.420
. . | 09 . . . . g.113270
AAGTTTATGGAAAAAGACAG | CTATGGCTCCAAAAGCAATATACTCCGTTTTTTTGCAAAA c.1320
K F M E K D S | Y G S K S N I L R F F A K p.440
. . . . . . g.113330
CTAGTCACAGACAAATGTGTTGACTTGGACAGGATGTTTGTTATTTCATATTATCTCGGT c.1380
L V T D K C V D L D R M F V I S Y Y L G p.460
. . . . | 10 . . g.116017
GATGACACCATTTCAGTGTTTGAACCTATAGAGAGGAATTCAG | GAATTGCTGGTGGGATG c.1440
D D T I S V F E P I E R N S G | I A G G M p.480
. . . . . . g.116077
TTCTTGAAAAGAAGTCGCGTTAAGAAGCCTGGACAAGAAGTCTTTAAAAGTGAACTATCT c.1500
F L K R S R V K K P G Q E V F K S E L S p.500
. . . . . . g.116137
GAATATATCAAGGCCGAGGAGCTGTACATTGGAGTCACGGTGAATGTGAATGGTTACCTA c.1560
E Y I K A E E L Y I G V T V N V N G Y L p.520
. . . . . . g.116197
TTTCGTTTGCTCAATGCTGATGAGTATACCTTAAACTACATGGAGCAGAATACAGATAAG c.1620
F R L L N A D E Y T L N Y M E Q N T D K p.540
| 11 . . . . . . g.118958
| TATCCTTTCAGTAACCTCAAACTTGCCCTACAAAAGCTGAAGCAAGAAGAAGGAAAATCC c.1680
| Y P F S N L K L A L Q K L K Q E E G K S p.560
. . . . . . g.119018
AGAGAGCTCAAGCAGGTATTTAAAGCTGCTGACTCTAAGCACACAAATATGGTGGATTAT c.1740
R E L K Q V F K A A D S K H T N M V D Y p.580
. | 12 . . . . . g.170162
AATACATTCAG | AGACATATTGATGTCTTTGACTGTTGGAAACCTTGCAGAGCAAGAATTT c.1800
N T F R | D I L M S L T V G N L A E Q E F p.600
. . . . . . g.170222
GTAACCATTGCACGTCACTACCGTGTGCCTGAGGGCACATGTTCAGATATGGATTTCTTA c.1860
V T I A R H Y R V P E G T C S D M D F L p.620
. . . . . . g.170282
ATCGCACTGGCCCACGAAAAGTTCAAGAAAAATATGTTTGAGAATTTCGACACTTTCATT c.1920
I A L A H E K F K K N M F E N F D T F I p.640
. . | 13 . . . g.172324
TATTCCTGTGTGTATGAAGATCGAGAAAA | AAAAAATGTATTACCCACCAAAGACATTAAA c.1980
Y S C V Y E D R E K | K N V L P T K D I K p.660
. . . . . . g.172384
AGGCTGTGCAAATCCTCCAGATTACCTTTGAGTGATGATCTTCTAGAATCCTTATTGTCA c.2040
R L C K S S R L P L S D D L L E S L L S p.680
| 14 . . . . . . g.184708
AG | GTTTGAAGACAGTGAAAAACAAATAGATTATAAGTCATTTTTCTCTGCCCTGAACTGG c.2100
R | F E D S E K Q I D Y K S F F S A L N W p.700
. . . . | 15 . g.199793
AGAAAGAATCCAGTGCCTGAATTGCAACCAGCATCATACCTTAAAGAG | AGATGTGAAGAT c.2160
R K N P V P E L Q P A S Y L K E | R C E D p.720
. . . . . . g.199853
GTTTGGCTTGGTATGCCATCACCTATTCCTGCGAAATACATTGACTACTGGACCTTTTTG c.2220
V W L G M P S P I P A K Y I D Y W T F L p.740
. . . g.199883
AAGGACGCGTTTGGCTTAGAGGAGGAATAA c.2250
K D A F G L E E E X p.749
. . . . . . g.199943
ccatgccagttttggtcaattctctatgatttacttctctcattttgccacatttacttt c.*60
. . . . . . g.200003
agtagatataatttcattaaaaacaaaaaagaaacaaggtttatattaaatggaaatcca c.*120
. . . . . . g.200063
taaaccacaattaatcctattttgtcatgttagttttacagaacatcatgttacattgcc c.*180
. . . . . . g.200123
gacgtactgttactatttaaaatgccatcttaaaacatgttgaatatttttattatatgt c.*240
. . . . . . g.200183
atggtttattaataccaaaaaatcttctgataatttttgatccaacataatttgattcat c.*300
. . . . . . g.200243
tactatatgaacagaaaatgacttttgaaggttatacatgacaatacaaaatcaaattat c.*360
. . . . . . g.200303
atcacagcaataagttgtgattctattaaacatttttgaaacctttttgacacgtttatt c.*420
. . . . . . g.200363
acttacataattaagttttgtagcaacccacctcatcaaaataattcttaaacctctcta c.*480
. . . . . . g.200423
gagtaaatatatttatcttttgaacttagtaaagctatgggaagaaaaagaacctccaac c.*540
. . . . . . g.200483
acacacacacacacacacacacacgcacgtgcacacacactggaaacatatgcagtattt c.*600
. . . . . . g.200543
atatttgtaatgcccttttttctatctaaagtcagcttgttagcttaggaatatatgcat c.*660
. . . . . . g.200603
gtgtgtataattatagtttgaccaaaactttattatgtctaaaatatttacaaatgtgaa c.*720
. . . . . . g.200663
agctgaagattttgagatttttgttttttttttggtttgttttacacacacatcccacgc c.*780
. . . . . . g.200723
gccccaccctagaggtttaaatattcagaaactacaacatttttcccctgcatttttcta c.*840
. . . . . . g.200783
gttctatttttatttttcttcagcagaactcttgtcatgtagtgtacatttgattaaaac c.*900
. g.200796
ccatagccatgta c.*913
(downstream sequence)
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