(used for variant description)
(last modified November 14, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_032539.4 in the SLITRK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering SLITRK2 transcript NM_032539.4.
(upstream sequence)
. . . g.5030
ctccttcctgcaagaagcgttgcccgttgg c.-961
. . . . . . g.5090
ctagctgctcggtggggatctgcctgccctgggggcgccgcccgcgctccccgcggtgct c.-901
. . . . . . g.5150
ctcgctcctgggctgcgccagtccgaggcggtgccggctcctttgcctccccgagtcgca c.-841
. . . . . | 02. g.7657
gatgctgcgggcgcctccgggaaaagatctgggcggcgcgctcgctcg | atggacacagga c.-781
. . . . . . | 03 g.8528
agatccagaagctagtggcacatctagcaacagagccagatcagaacccag | gttggaggt c.-721
. . . . . . g.8588
ggagtagttcagaatcaactgacgcagccgggaattgagctttgcaaagccacttgcaag c.-661
. . . . . . g.8648
gaagggaagcatctgcccaaccctcccccaccgcgcgccctggatcctctgcctgccccc c.-601
. . . . . . g.8708
tcccccgtgacgtcaccctagtcctgtcccggggagcctgcaaagcctctcagattcaaa c.-541
. . . . . . g.8768
ctgctagacgcactgctgccaccgccaccgaattggaaacgcgcgcccaggctccgtcgt c.-481
. . . . . . g.8828
cgccttcgcccgccgaccgggccagccggctctccgacctccctacagaatcgcacccca c.-421
. . . . . . g.8888
gtccctccctggcagctcggcttccctcagctccaactcttctcttccgctcctgcctcc c.-361
. . . . . . g.8948
tgtcggatttttaatttctgcgcacccccagtcaaattaaatcaaccaacaaaaagcagg c.-301
. . . . . . g.9008
gcatcccccctggaagcagcgtcttattttaccttgttctcccacttcctgaagatgcta c.-241
. . . . . | 04. g.9188
aactcctggtggactgcagaggagagggattcagtcttctcctgatgt | cgattgcgattt c.-181
. . . . . . g.9248
ctgctgggagctcaagacgggcgagctgcccgagatctcttcgagataccccaggggagg c.-121
. . . . . . g.9308
aggagatgggcaggatttagtaggacaactcggttactaatgacttggcggctggctgcg c.-61
. . | 05 . . . . g.9597
accccccgggaaatcag | gtttgcctgtaggtacctgagttgacaccgaaggtgcctaaag c.-1
. . . . . . g.9657
ATGCTGAGCGGCGTTTGGTTCCTCAGTGTGTTAACCGTGGCCGGGATCTTACAGACAGAG c.60
M L S G V W F L S V L T V A G I L Q T E p.20
. . . . . . g.9717
AGTCGCAAAACTGCCAAAGACATTTGCAAGATCCGCTGTCTGTGCGAAGAAAAGGAAAAC c.120
S R K T A K D I C K I R C L C E E K E N p.40
. . . . . . g.9777
GTACTGAATATCAACTGTGAGAACAAAGGATTTACAACAGTTAGCCTGCTCCAGCCCCCC c.180
V L N I N C E N K G F T T V S L L Q P P p.60
. . . . . . g.9837
CAGTATCGAATCTATCAGCTTTTTCTCAATGGAAACCTCTTGACAAGACTGTATCCAAAC c.240
Q Y R I Y Q L F L N G N L L T R L Y P N p.80
. . . . . . g.9897
GAATTTGTCAATTACTCCAACGCGGTGACTCTTCACCTAGGTAACAACGGGTTACAGGAG c.300
E F V N Y S N A V T L H L G N N G L Q E p.100
. . . . . . g.9957
ATCCGAACGGGGGCATTCAGTGGCCTGAAAACTCTCAAAAGACTGCATCTCAACAACAAC c.360
I R T G A F S G L K T L K R L H L N N N p.120
. . . . . . g.10017
AAGCTTGAGATATTGAGGGAGGACACCTTCCTAGGCCTGGAGAGCCTGGAGTATCTCCAG c.420
K L E I L R E D T F L G L E S L E Y L Q p.140
. . . . . . g.10077
GCCGACTACAATTACATCAGTGCCATCGAGGCTGGGGCATTCAGCAAACTTAACAAGCTC c.480
A D Y N Y I S A I E A G A F S K L N K L p.160
. . . . . . g.10137
AAAGTGCTCATCCTGAATGACAACCTTCTGCTTTCACTGCCCAGCAATGTGTTCCGCTTT c.540
K V L I L N D N L L L S L P S N V F R F p.180
. . . . . . g.10197
GTCCTGCTGACCCACTTAGACCTCAGGGGGAATAGGCTAAAAGTAATGCCTTTTGCTGGC c.600
V L L T H L D L R G N R L K V M P F A G p.200
. . . . . . g.10257
GTCCTTGAACATATTGGAGGGATCATGGAGATTCAGCTGGAGGAAAATCCATGGAATTGC c.660
V L E H I G G I M E I Q L E E N P W N C p.220
. . . . . . g.10317
ACTTGTGACTTACTTCCTCTCAAGGCCTGGCTAGACACCATAACTGTTTTTGTGGGAGAG c.720
T C D L L P L K A W L D T I T V F V G E p.240
. . . . . . g.10377
ATTGTCTGTGAGACTCCCTTTAGGTTGCATGGGAAAGACGTGACCCAGCTGACCAGGCAA c.780
I V C E T P F R L H G K D V T Q L T R Q p.260
. . . . . . g.10437
GACCTCTGTCCCAGAAAAAGTGCCAGTGATTCCAGTCAGAGGGGCAGCCATGCTGACACC c.840
D L C P R K S A S D S S Q R G S H A D T p.280
. . . . . . g.10497
CACGTCCAAAGGCTGTCACCTACAATGAATCCTGCTCTCAACCCAACCAGGGCTCCGAAA c.900
H V Q R L S P T M N P A L N P T R A P K p.300
. . . . . . g.10557
GCCAGCCGGCCGCCCAAAATGAGAAATCGTCCAACTCCTCGAGTGACTGTGTCAAAGGAC c.960
A S R P P K M R N R P T P R V T V S K D p.320
. . . . . . g.10617
AGGCAAAGTTTTGGACCCATCATGGTGTACCAGACCAAGTCTCCTGTGCCTCTCACCTGT c.1020
R Q S F G P I M V Y Q T K S P V P L T C p.340
. . . . . . g.10677
CCCAGCAGCTGTGTCTGCACCTCTCAGAGCTCAGACAATGGTCTGAATGTAAACTGCCAA c.1080
P S S C V C T S Q S S D N G L N V N C Q p.360
. . . . . . g.10737
GAAAGGAAGTTCACTAATATCTCTGACCTGCAGCCCAAACCGACCAGTCCAAAGAAACTC c.1140
E R K F T N I S D L Q P K P T S P K K L p.380
. . . . . . g.10797
TACCTAACAGGGAACTATCTTCAAACTGTCTATAAGAATGACCTCTTAGAATACAGTTCT c.1200
Y L T G N Y L Q T V Y K N D L L E Y S S p.400
. . . . . . g.10857
TTGGACTTACTGCACTTAGGAAACAACAGGATTGCAGTCATTCAGGAAGGTGCCTTTACA c.1260
L D L L H L G N N R I A V I Q E G A F T p.420
. . . . . . g.10917
AACCTGACCAGTTTACGCAGACTTTATCTGAATGGCAATTACCTTGAAGTGCTGTACCCT c.1320
N L T S L R R L Y L N G N Y L E V L Y P p.440
. . . . . . g.10977
TCTATGTTTGATGGACTGCAGAGCTTGCAATATCTCTATTTAGAGTATAATGTCATTAAG c.1380
S M F D G L Q S L Q Y L Y L E Y N V I K p.460
. . . . . . g.11037
GAAATTAAGCCTCTGACCTTTGATGCTTTGATTAACCTACAGCTACTGTTTCTGAACAAC c.1440
E I K P L T F D A L I N L Q L L F L N N p.480
. . . . . . g.11097
AACCTTCTTCGGTCCTTACCTGATAATATATTTGGGGGGACGGCCCTAACCAGGCTGAAT c.1500
N L L R S L P D N I F G G T A L T R L N p.500
. . . . . . g.11157
CTGAGAAACAACCATTTTTCTCACCTGCCCGTGAAAGGGGTTCTGGATCAGCTCCCGGCT c.1560
L R N N H F S H L P V K G V L D Q L P A p.520
. . . . . . g.11217
TTCATCCAGATAGATCTGCAGGAGAACCCCTGGGACTGTACCTGTGACATCATGGGGCTG c.1620
F I Q I D L Q E N P W D C T C D I M G L p.540
. . . . . . g.11277
AAAGACTGGACAGAACATGCCAATTCCCCTGTCATCATTAATGAGGTGACTTGCGAATCT c.1680
K D W T E H A N S P V I I N E V T C E S p.560
. . . . . . g.11337
CCTGCTAAGCATGCAGGGGAGATACTAAAATTTCTGGGGAGGGAGGCTATCTGTCCAGAC c.1740
P A K H A G E I L K F L G R E A I C P D p.580
. . . . . . g.11397
AGCCCAAACTTGTCAGATGGAACCGTCTTGTCAATGAATCACAATACAGACACACCTCGG c.1800
S P N L S D G T V L S M N H N T D T P R p.600
. . . . . . g.11457
TCGCTTAGTGTGTCTCCTAGTTCCTATCCTGAACTACACACTGAAGTTCCACTGTCTGTC c.1860
S L S V S P S S Y P E L H T E V P L S V p.620
. . . . . . g.11517
TTAATTCTGGGATTGCTTGTTGTTTTCATCTTATCTGTCTGTTTTGGGGCTGGTTTATTC c.1920
L I L G L L V V F I L S V C F G A G L F p.640
. . . . . . g.11577
GTCTTTGTCTTGAAACGCCGAAAGGGAGTGCCGAGCGTTCCCAGGAATACCAACAACTTA c.1980
V F V L K R R K G V P S V P R N T N N L p.660
. . . . . . g.11637
GACGTAAGCTCCTTTCAATTACAGTATGGGTCTTACAACACTGAGACTCACGATAAAACA c.2040
D V S S F Q L Q Y G S Y N T E T H D K T p.680
. . . . . . g.11697
GACGGCCATGTCTACAACTATATCCCCCCACCTGTGGGTCAGATGTGCCAAAACCCCATC c.2100
D G H V Y N Y I P P P V G Q M C Q N P I p.700
. . . . . . g.11757
TACATGCAGAAGGAAGGAGACCCAGTAGCCTATTACCGAAACCTGCAAGAGTTCAGCTAT c.2160
Y M Q K E G D P V A Y Y R N L Q E F S Y p.720
. . . . . . g.11817
AGCAACCTGGAGGAGAAAAAAGAAGAGCCAGCCACACCTGCTTACACAATAAGTGCCACT c.2220
S N L E E K K E E P A T P A Y T I S A T p.740
. . . . . . g.11877
GAGCTGCTAGAAAAGCAGGCCACACCAAGAGAGCCTGAGCTGCTGTATCAAAATATTGCT c.2280
E L L E K Q A T P R E P E L L Y Q N I A p.760
. . . . . . g.11937
GAGCGAGTCAAGGAACTTCCCAGCGCAGGCCTAGTCCACTATAACTTTTGTACCTTACCT c.2340
E R V K E L P S A G L V H Y N F C T L P p.780
. . . . . . g.11997
AAAAGGCAGTTTGCCCCTTCCTATGAATCTCGACGCCAAAACCAAGACAGAATCAATAAA c.2400
K R Q F A P S Y E S R R Q N Q D R I N K p.800
. . . . . . g.12057
ACCGTTTTATATGGAACTCCCAGGAAATGCTTTGTGGGGCAGTCAAAACCCAACCACCCT c.2460
T V L Y G T P R K C F V G Q S K P N H P p.820
. . . . . . g.12117
TTACTGCAAGCTAAGCCGCAATCAGAACCGGACTACCTCGAAGTTCTGGAAAAACAAACT c.2520
L L Q A K P Q S E P D Y L E V L E K Q T p.840
. g.12135
GCAATCAGTCAGCTGTGA c.2538
A I S Q L X p.845
. . . . . . g.12195
agggaaatcatttacaaccctaaggcatcagaggatgctgctccgaactgttggaaacaa c.*60
. . . . . . g.12255
ggacattagcttttgtgtttgtttttgttctccctttcccagtgttaatgggggactttg c.*120
. . . . . . g.12315
aaaatgtttgggagataggatgaagtcatgattttgcttttgcaagttttcctttaaatt c.*180
. . . . . . g.12375
atttctctctcgctctcctcccctccttttttttttttttttttttttctttttcccttc c.*240
. . . . . . g.12435
tcttcttaggaaccatcagtggacatgaatgtttctacaatgcatttcttcatagatttt c.*300
. . . . . . g.12495
gtttatggttttgtttcttttttcttctttgtttttcagtgtgggagtgggaagaggaga c.*360
. . . . . . g.12555
ttatagtgactgaagaaagaataggcaaacttttcaaatgaaaatggatatttagtgtat c.*420
. . . . . . g.12615
tttgtagaagatctccaaagatcttttgtgactacaacttcttttgtaaataatgatata c.*480
. . . . . . g.12675
tggtatttccatcgtcagttaccgagtatagccactgggtatcactactttgtgttaaag c.*540
. . . . . . g.12735
tgccttcgcactttaagtacattacttaaatgttgcttttagctttgataaattgaaaat c.*600
. . . . . . g.12795
attttaatgtgttgtatttttgaaattgaaaacactgtaaaatagattgatgtgtcagct c.*660
. . . . . . g.12855
atattaagtcaacgtacagtttgcttgagttatagaaaccagcctgtcatcaaatgattc c.*720
. . . . . . g.12915
tagttctaggactttgtaggcttaactataaaatatttcctttcctctgggtttaagtga c.*780
. . . . . . g.12975
ttttatttaagtcaactaaggggatttaacagtggactagaggtaataagccacctcagt c.*840
. . . g.13014
caggattaataattcattaataaaatatatttaacccaa c.*879
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center