(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_017755.5 in the NSUN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028215.1, covering NSUN2 transcript NM_017755.5.
(upstream sequence)
. . g.5021
ggacctgcaagcgccccaccc c.-361
. . . . . . g.5081
acgccggggccgcagtaaccccgcgccgctctgcgcacgcgcggcttcaggctgtccgcg c.-301
. . . . . . g.5141
gagctccttgagcccgcgtgggaaacctgggcgcttcgcgcggagacgcctttgtggctg c.-241
. . . . . . g.5201
cttcctggagcatttttttccccttagagctgttcgctgttttccctgtcacgccgcttt c.-181
. . . . . . g.5261
tctgaaagacgggttgtgcgctttgggcttattcctggacggtccccaaaggtccccgaa c.-121
. . . . . . g.5321
aggaccaggcccggacacgtggggccttggtttccggccggaagtcccgggaggtgtagg c.-61
. . . . . . g.5381
gctagagttctggccgtggcgggccggtttctgcgtgctgcgtgcgcggccgcgtgggct c.-1
. . . . . . g.5441
ATGGGGCGGCGGTCGCGGGGTCGGCGGCTCCAGCAACAGCAGCGGCCGGAGGACGCGGAG c.60
M G R R S R G R R L Q Q Q Q R P E D A E p.20
. . . | 02 . . . g.5628
GATGGCGCCGAGGGTGGTGGAAAGCGCGGCGAGGCG | GGCTGGGAAGGAGGCTACCCCGAG c.120
D G A E G G G K R G E A | G W E G G Y P E p.40
. . . . . . g.5688
ATCGTCAAGGAGAACAAGCTGTTCGAGCACTACTACCAGGAGCTCAAGATCGTGCCCGAG c.180
I V K E N K L F E H Y Y Q E L K I V P E p.60
. . . . . . g.5748
GGCGAGTGGGGCCAGTTCATGGACGCTCTCAGGGAGCCGCTCCCGGCCACTTTAAGAATT c.240
G E W G Q F M D A L R E P L P A T L R I p.80
. | 03 . . . . . g.6429
ACTGGTTACAAAAG | CCACGCAAAAGAGATTCTCCATTGCTTAAAGAACAAATATTTTAAG c.300
T G Y K S | H A K E I L H C L K N K Y F K p.100
. . . . . | 04 g.12692
GAATTGGAGGACCTGGAGGTGGACGGTCAGAAAGTTGAAGTTCCACAGCCACTGAGTTG | G c.360
E L E D L E V D G Q K V E V P Q P L S W | p.120
. . . . . . g.12752
TATCCTGAAGAACTTGCCTGGCACACAAATTTAAGTCGAAAAATCTTGAGAAAATCGCCA c.420
Y P E E L A W H T N L S R K I L R K S P p.140
. . . . | 05 . . g.15090
CACTTGGAAAAGTTTCATCAGTTTCTAGTTAGTGAAACAGAATCT | GGAAATATTAGTCGT c.480
H L E K F H Q F L V S E T E S | G N I S R p.160
. . . . . | 06. g.16263
CAAGAAGCTGTTAGCATGATCCCACCACTGCTCCTCAACGTGCGGCCTCATCATAAG | ATC c.540
Q E A V S M I P P L L L N V R P H H K | I p.180
. . . . . . g.16323
TTAGATATGTGTGCAGCACCTGGCTCAAAGACCACACAGTTAATTGAAATGCTACATGCC c.600
L D M C A A P G S K T T Q L I E M L H A p.200
. . | 07 . . . . g.18100
GACATGAATGTCCCCTTTCCAG | AGGGATTTGTTATTGCGAATGATGTGGACAACAAGCGC c.660
D M N V P F P E | G F V I A N D V D N K R p.220
. . . . . . g.18160
TGCTACCTGCTCGTCCATCAAGCCAAGAGGCTGAGCAGCCCCTGCATCATGGTGGTCAAC c.720
C Y L L V H Q A K R L S S P C I M V V N p.240
. . . . . . g.18220
CATGATGCCTCCAGCATACCCAGGCTCCAGATAGATGTGGACGGCAGGAAAGAGATCCTC c.780
H D A S S I P R L Q I D V D G R K E I L p.260
. . . | 08 . . . g.20361
TTCTATGATCGAATTTTATGTGATGTCCCTTGCAG | TGGAGACGGCACTATGAGAAAAAAC c.840
F Y D R I L C D V P C S | G D G T M R K N p.280
. . . . . | 09 . g.21513
ATTGATGTTTGGAAAAAGTGGACCACCTTAAATAGCTTGCAGCTACATGG | CTTACAGCTG c.900
I D V W K K W T T L N S L Q L H G | L Q L p.300
. . . . . . g.21573
CGGATTGCAACACGCGGGGCTGAACAGCTGGCTGAAGGTGGAAGGATGGTGTATTCCACG c.960
R I A T R G A E Q L A E G G R M V Y S T p.320
. . . . . . g.21633
TGTTCACTAAACCCTATTGAGGATGAAGCAGTCATAGCATCTTTACTGGAAAAAAGTGAA c.1020
C S L N P I E D E A V I A S L L E K S E p.340
| 10 . . . . . . g.26621
G | GTGCTTTGGAGCTTGCTGATGTGTCTAATGAACTGCCAGGGCTGAAGTGGATGCCTGGA c.1080
G | A L E L A D V S N E L P G L K W M P G p.360
. | 11 . . . . . g.27320
ATCACACAGTGGAAG | GTAATGACGAAAGATGGGCAGTGGTTTACAGACTGGGACGCTGTT c.1140
I T Q W K | V M T K D G Q W F T D W D A V p.380
. . . . . . g.27380
CCTCACAGCAGACACACCCAGATCCGACCTACCATGTTCCCTCCGAAGGACCCAGAAAAG c.1200
P H S R H T Q I R P T M F P P K D P E K p.400
. . | 12 . . . . g.28472
CTGCAGGCCATGCACCTGGAGCGATG | CCTTAGGATATTACCCCATCATCAGAATACTGGA c.1260
L Q A M H L E R C | L R I L P H H Q N T G p.420
. . . . . . g.28532
GGGTTTTTTGTGGCAGTATTGGTGAAAAAATCTTCAATGCCGTGGAATAAACGTCAGCCA c.1320
G F F V A V L V K K S S M P W N K R Q P p.440
| 13 . . . . . . g.31033
AAG | CTTCAGGGTAAATCTGCAGAGACCAGAGAAAGCACACAGCTGAGCCCTGCAGATCTC c.1380
K | L Q G K S A E T R E S T Q L S P A D L p.460
. . . . . . g.31093
ACAGAAGGGAAACCCACAGATCCCTCTAAGCTGGAAAGTCCGTCATTCACAGGAACTGGT c.1440
T E G K P T D P S K L E S P S F T G T G p.480
. . . . . . g.31153
GACACAGAAATAGCTCATGCAACTGAGGATTTAGAGAATAATGGCAGTAAGAAAGATGGC c.1500
D T E I A H A T E D L E N N G S K K D G p.500
| 14 . . . . . g.31500
GTGTGTGG | TCCTCCTCCATCAAAGAAAATGAAGTTATTTGGATTTAAAGAAGATCCATTT c.1560
V C G | P P P S K K M K L F G F K E D P F p.520
. . . . | 15 . . g.32971
GTATTTATTCCTGAAGATGACCCATTATTTCCACCTATTGA | GAAATTTTATGCTTTGGAT c.1620
V F I P E D D P L F P P I E | K F Y A L D p.540
. . . . . . g.33031
CCTTCATTCCCAAGGATGAATTTGTTAACTCGGACTACAGAAGGGAAGAAAAGGCAGCTC c.1680
P S F P R M N L L T R T T E G K K R Q L p.560
. . . . . | 16. g.33678
TACATGGTTTCTAAGGAGTTGCGGAATGTGCTGCTGAATAACAGTGAGAAGATGAAG | GTT c.1740
Y M V S K E L R N V L L N N S E K M K | V p.580
. . . . . . g.33738
ATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCT c.1800
I N T G I K V W C R N N S G E E F D C A p.600
. | 17 . . . . g.34126
TTCCGGCTGGCACAGGAG | GGAATATATACATTGTATCCATTTATTAACTCAAGAATTATT c.1860
F R L A Q E | G I Y T L Y P F I N S R I I p.620
. . . . . . g.34186
ACTGTATCAATGGAAGATGTTAAGATACTGTTGACCCAGGAAAATCCCTTTTTTAGAAAA c.1920
T V S M E D V K I L L T Q E N P F F R K p.640
. . . | 18. . . g.35883
CTCAGCAGTGAGACCTACAGTCAAGCAAAGGACCTGG | CAAAGGGAAGCATCGTGCTGAAG c.1980
L S S E T Y S Q A K D L A | K G S I V L K p.660
. | 19. . . . . g.38171
TATGAACCAGATTCTGC | GAATCCAGACGCTCTGCAGTGTCCCATCGTCTTATGCGGATGG c.2040
Y E P D S A | N P D A L Q C P I V L C G W p.680
. . . . . . g.38231
CGGGGAAAGGCCTCCATTCGAACTTTTGTGCCCAAGAATGAACGGCTTCATTATCTCAGG c.2100
R G K A S I R T F V P K N E R L H Y L R p.700
. . . . . . g.38291
ATGATGGGGCTGGAGGTATTGGGAGAAAAGAAGAAGGAAGGGGTTATCCTCACAAATGAG c.2160
M M G L E V L G E K K K E G V I L T N E p.720
. . . . . . g.38351
AGTGCAGCCAGCACCGGACAGCCAGACAATGACGTGACTGAGGGACAGAGAGCAGGAGAG c.2220
S A A S T G Q P D N D V T E G Q R A G E p.740
. . . . . . g.38411
CCCAACAGCCCAGATGCAGAAGAGGCCAACAGTCCAGACGTGACAGCAGGCTGTGACCCG c.2280
P N S P D A E E A N S P D V T A G C D P p.760
. . g.38435
GCGGGGGTCCATCCACCCCGGTGA c.2304
A G V H P P R X p.767
. . . . . . g.38495
gcaggcccaaggcagcgggggcccacacccctcacacgcaaaactggcttcttctggtca c.*60
. . . . . . g.38555
ctggtgtctgaaaccaaatccagagcagcctgtggcctgtaaagcatatatttctaatga c.*120
. . . . . . g.38615
ctgcagactggtgggatcataggagccttctgaatgaccaggactgctttctttggagct c.*180
. . . . . . g.38675
gatgaaaatgtactcttttagcgtgttagaaatcacttgttttattttgtttctttggcc c.*240
. . . . . . g.38735
aagctgggtctagtgtttcttttgctgggaatagactttcaaaagttgtacttctatcaa c.*300
. . . . . . g.38795
gaaacaaaactgcccttgcagaaatttcaggtcttttgttaagcctgtattggtcttaag c.*360
. . . . . . g.38855
gtgcagtattttttaaattattatttatagaaagaatctataaattcttggggaagtgtg c.*420
. . . . . . g.38915
ttataagctttaataattacattgagctgcacctcagtggtgtgtcattaacatgcagtg c.*480
. . . . . . g.38975
gggttaatatctgaggcctcagatgactttgtgccttttggaataaagggtaaaataaac c.*540
. . . . . . g.39035
tctcccagagtaagagctgtatcgtgaattgtcatactaattattgagggggacttatgt c.*600
. . . . . . g.39095
gcttttattgaatggagtgctttacaatttttatttttaaatggggttgggatccttgga c.*660
. . g.39122
atatttcaataaaattgataaaatata c.*687
(downstream sequence)
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