(used for variant description)
(last modified November 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_005412.5 in the SHMT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029163.1, covering SHMT2 transcript NM_005412.5.
(upstream sequence)
. . g.5026
ataaagaaaaaagcggtgagtgggcg c.-181
. . . . . . g.5086
aactacaattcccaaaaggccacaaaggggccaccactacgcatgcgtagatccctcccg c.-121
. . . . . . g.5146
ttagctttggcgcctcagcgagctcttctcgcgcatgcgttctccgaacggtcttcttcc c.-61
. . . . . . g.5206
gacagcttgctgccctagaccagagttggtggctggacctcctgcgacttccgagttgcg c.-1
. . . | 02 . . . g.6257
ATGCTGTACTTCTCTTTGTTTTGGGCGGCTCGG | CCTCTGCAGAGATGTGGGCAGCTGGTC c.60
M L Y F S L F W A A R | P L Q R C G Q L V p.20
. . . . . . g.6317
AGGATGGCCATTCGGGCTCAGCACAGCAACGCAGCCCAGACTCAGACTGGGGAAGCAAAC c.120
R M A I R A Q H S N A A Q T Q T G E A N p.40
. . . . . . g.6377
AGGGGCTGGACAGGCCAGGAGAGCCTGTCGGACAGTGATCCTGAGATGTGGGAGTTGCTG c.180
R G W T G Q E S L S D S D P E M W E L L p.60
. . . . . | 03 . g.6917
CAGAGGGAGAAGGACAGGCAGTGTCGTGGCCTGGAGCTCATTGCCTCAGAG | AACTTCTGC c.240
Q R E K D R Q C R G L E L I A S E | N F C p.80
. . . . . . g.6977
AGCCGAGCTGCGCTGGAGGCCCTGGGGTCCTGTCTGAACAACAAGTACTCGGAGGGTTAT c.300
S R A A L E A L G S C L N N K Y S E G Y p.100
. | 04 . . . . . g.7189
CCTGGCAAGAG | ATACTATGGGGGAGCAGAGGTGGTGGATGAAATTGAGCTGCTGTGCCAG c.360
P G K R | Y Y G G A E V V D E I E L L C Q p.120
. . . . . . g.7249
CGCCGGGCCTTGGAAGCCTTTGACCTGGATCCTGCACAGTGGGGAGTCAATGTCCAGCCC c.420
R R A L E A F D L D P A Q W G V N V Q P p.140
. . . . . . g.7309
TACTCCGGGTCCCCAGCCAACCTGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGG c.480
Y S G S P A N L A V Y T A L L Q P H D R p.160
. . . | 05 . . . g.7666
ATCATGGGGCTGGACCTGCCCGATGGGGGCCA | TCTCACCCACGGCTACATGTCTGACGTC c.540
I M G L D L P D G G H | L T H G Y M S D V p.180
. . . . . | 06 . g.7886
AAGCGGATATCAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAAC | CCCAAA c.600
K R I S A T S I F F E S M P Y K L N | P K p.200
. . . . . . g.7946
ACTGGCCTCATTGACTACAACCAGCTGGCACTGACTGCTCGACTTTTCCGGCCACGGCTC c.660
T G L I D Y N Q L A L T A R L F R P R L p.220
. . . . . | 07. g.8134
ATCATAGCTGGCACCAGCGCCTATGCTCGCCTCATTGACTACGCCCGCATGAGAGAG | GTG c.720
I I A G T S A Y A R L I D Y A R M R E | V p.240
. . . . . . g.8194
TGTGATGAAGTCAAAGCACACCTGCTGGCAGACATGGCCCACATCAGTGGCCTGGTGGCT c.780
C D E V K A H L L A D M A H I S G L V A p.260
. . . . . . g.8254
GCCAAGGTGATTCCCTCGCCTTTCAAGCACGCGGACATCGTCACCACCACTACTCACAAG c.840
A K V I P S P F K H A D I V T T T T H K p.280
. | 08. . . . . g.8650
ACTCTTCGAGGGGCCAG | GTCAGGGCTCATCTTCTACCGGAAAGGGGTGAAGGCTGTGGAC c.900
T L R G A R | S G L I F Y R K G V K A V D p.300
. . . . . . g.8710
CCCAAGACTGGCCGGGAGATCCCTTACACATTTGAGGACCGAATCAACTTTGCCGTGTTC c.960
P K T G R E I P Y T F E D R I N F A V F p.320
. . . . . . g.8770
CCATCCCTGCAGGGGGGCCCCCACAATCATGCCATTGCTGCAGTAGCTGTGGCCCTAAAG c.1020
P S L Q G G P H N H A I A A V A V A L K p.340
| 09 . . . . . . g.9047
CAG | GCCTGCACCCCCATGTTCCGGGAGTACTCCCTGCAGGTTCTGAAGAATGCTCGGGCC c.1080
Q | A C T P M F R E Y S L Q V L K N A R A p.360
. . . . | 10 . . g.9193
ATGGCAGATGCCCTGCTAGAGCGAGGCTACTCACTGGTATCAG | GTGGTACTGACAACCAC c.1140
M A D A L L E R G Y S L V S G | G T D N H p.380
. . . . . . g.9253
CTGGTGCTGGTGGACCTGCGGCCCAAGGGCCTGGATGGAGCTCGGGCTGAGCGGGTGCTA c.1200
L V L V D L R P K G L D G A R A E R V L p.400
. . . . . . g.9313
GAGCTTGTATCCATCACTGCCAACAAGAACACCTGTCCTGGAGACCGAAGTGCCATCACA c.1260
E L V S I T A N K N T C P G D R S A I T p.420
. | 11 . . . . g.9471
CCGGGCGGCCTGCGGCTTG | GGGCCCCAGCCTTAACTTCTCGACAGTTCCGTGAGGATGAC c.1320
P G G L R L G | A P A L T S R Q F R E D D p.440
. . . . . . g.9531
TTCCGGAGAGTTGTGGACTTTATAGATGAAGGGGTCAACATTGGCTTAGAGGTGAAGAGC c.1380
F R R V V D F I D E G V N I G L E V K S p.460
| 12. . . . . . g.9714
AAGACTG | CCAAGCTCCAGGATTTCAAATCCTTCCTGCTTAAGGACTCAGAAACAAGTCAG c.1440
K T A | K L Q D F K S F L L K D S E T S Q p.480
. . . . . . g.9774
CGTCTGGCCAACCTCAGGCAACGGGTGGAGCAGTTTGCCAGGGCCTTCCCCATGCCTGGT c.1500
R L A N L R Q R V E Q F A R A F P M P G p.500
. g.9789
TTTGATGAGCATTGA c.1515
F D E H X p.504
. . . . . . g.9849
aggcacctgggaaatgaggcccacagactcaaagttactctccttccccctacctgggcc c.*60
. . . . . . g.9909
agtgaaatagaaagcctttctattttttggtgcgggagggaagacctctcacttagggca c.*120
. . . . . . g.9969
agagccaggtatagtctcccttcccagaatttgtaactgagaagatcttttctttttcct c.*180
. . . . . . g.10029
ttttttggtaacaagacttagaaggagggcccaggcactttctgtttgaacccctgtcat c.*240
. . . . . . g.10089
gatcacagtgtcagagacgcgtcctctttcttggggaagttgaggagtgcccttcagagc c.*300
. . . . . . g.10149
cagtagcaggcaggggtgggtaggcaccctccttcctgtttttatctaataaaatgctaa c.*360
. . . . . . g.10209
cctgccctgagtttccattactgtgggtggggttcccctgggccaaacagtgatttgtct c.*420
. . . . . . g.10269
ccctcaatgtgtacaccgctccgctcccaccaccgctaccacaaggacccccggggctgc c.*480
. . . . . . g.10329
agcctcctctttctgtctctgatcagagccgacaccagacgtgattagcaggcgcagcaa c.*540
. . . g.10363
attcaatttgttaaatgaaattgtattttgccca c.*574
(downstream sequence)
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