(used for variant description)
(last modified September 10, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_004593.2 in the TRA2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering TRA2B transcript NM_004593.2.
(upstream sequence)
. . . g.5036
gtgcgggacgcgctgcagctggagaggaaaggcaga c.-241
. . . . . . g.5096
gcgaggaggggcgaggccaagaaagcgcgcgtttctgggaggggaggagcctggctaagg c.-181
. . . . . . g.5156
agcgccgcgtcacatccggtagagttagagcccgtgcggaggcggtgcggagcatttcgg c.-121
. . . . . . g.5216
ctctgagcggctgggcgaccggcgcgtcgtgcggggctgcggcggagcctccttaaggaa c.-61
. . . . . . g.5276
ggtgcaagaggttggcagcttcgattgaagcacatcgaccggcgacagcagccaggagtc c.-1
. . . | 02 . . . g.16426
ATGAGCGACAGCGGCGAGCAGAACTACGGCGAGCGG | GAATCCCGTTCTGCTTCCAGAAGT c.60
M S D S G E Q N Y G E R | E S R S A S R S p.20
. . . . . . g.16486
GGAAGTGCTCACGGATCGGGGAAATCTGCAAGGCATACCCCTGCAAGGTCTCGCTCCAAG c.120
G S A H G S G K S A R H T P A R S R S K p.40
. . . . . | 03 . g.17520
GAAGATTCCAGGCGTTCCAGATCAAAGTCCAGGTCCCGATCTGAATCTAG | GTCTAGATCC c.180
E D S R R S R S K S R S R S E S R | S R S p.60
. . . . . . g.17580
AGAAGAAGCTCCCGAAGGCATTATACCCGGTCACGGTCTCGCTCCCGCTCCCATAGACGA c.240
R R S S R R H Y T R S R S R S R S H R R p.80
. . . . . . g.17640
TCACGTAGCAGGTCTTACAGTCGAGATTATCGTAGACGGCACAGCCACAGCCATTCTCCC c.300
S R S R S Y S R D Y R R R H S H S H S P p.100
. . . | 04 . . . g.19179
ATGTCTACTCGCAGGCGTCATGTTGGGAATCGG | GCAAATCCTGATCCTAACTGTTGTCTT c.360
M S T R R R H V G N R | A N P D P N C C L p.120
. . . . . . g.19239
GGAGTATTTGGGCTGAGCTTGTACACCACAGAAAGAGATCTAAGAGAAGTGTTCTCTAAA c.420
G V F G L S L Y T T E R D L R E V F S K p.140
. . . . . . g.19299
TATGGTCCCATTGCCGATGTGTCTATTGTATATGACCAGCAGTCTAGGCGTTCAAGAGGA c.480
Y G P I A D V S I V Y D Q Q S R R S R G p.160
. . . . | 05 . . g.21028
TTTGCCTTTGTATATTTTGAAAATGTAGATGATGCCAAGGAA | GCTAAAGAACGTGCCAAT c.540
F A F V Y F E N V D D A K E | A K E R A N p.180
. . . . . . g.21088
GGAATGGAGCTTGATGGGCGTAGGATCAGAGTTGATTTCTCTATAACAAAAAGACCACAT c.600
G M E L D G R R I R V D F S I T K R P H p.200
. . . | 06 . . g.21971
ACGCCAACACCAGGAATTTACATGGGGAGACCTACCTA | TGGCAGCTCTCGCCGTCGGGAT c.660
T P T P G I Y M G R P T Y | G S S R R R D p.220
. . . . . . g.22031
TACTATGACAGAGGATATGATCGGGGCTATGATGATCGGGACTACTATAGCAGATCATAC c.720
Y Y D R G Y D R G Y D D R D Y Y S R S Y p.240
| 07 . . . . . . g.23698
AG | AGGAGGAGGTGGAGGAGGAGGAGGATGGAGAGCTGCCCAAGACAGGGATCAGATTTAT c.780
R | G G G G G G G G W R A A Q D R D Q I Y p.260
| 08 . . . . . . g.24756
AG | AAGGCGGTCACCTTCTCCTTACTATAGTCGTGGAGGATACAGATCACGTTCCAGATCT c.840
R | R R S P S P Y Y S R G G Y R S R S R S p.280
. | 09 . g.25455
CGATCATACTCACCTC | GTCGCTATTAA c.867
R S Y S P R | R Y X p.288
. . . . . . g.25515
agcatgaagactttctgaaacctgccctagagctgggatattgtttgtgggcaatatttt c.*60
. . . . . . g.25575
ttattgtctcttgtttaaaaagtgaacagtgcctagtgaagttaggtgacttttacacct c.*120
. . . . . . g.25635
tttacgatgactacttttggtggagttgaaatgctgttttcattctgcatttgtgtagtt c.*180
. . . . . . g.25695
tggtgctttgttccaagttaagtgttttcagaaaagtatgttttgcatgtatttttttac c.*240
. . . . . . g.25755
agtctaaattttgactgctgagaagtttctattgtacaaaacttcatttaaaaggttttt c.*300
. . . . . . g.25815
ctactgaatccagggtattctgaagatcgaagcctgtgtaaaatgctaccaaatggcaaa c.*360
. . . . . . g.25875
aagcaacaataaacagtttgatttttacttttctttctaacatatcaatgcttagcagaa c.*420
. . . . . . g.25935
ctattcagattgtcagtagtaaatttaaagacaaatgcccgttttcctccagtccatgaa c.*480
. . . . . . g.25995
acataccatacttatatacctgcaactaagtgtttaaaattatgctctgtaactctgtac c.*540
. . . . . . g.26055
tgctagtattagaactaaaaatcttaaaatacagccagtgcttaatgcttatatcaatgt c.*600
. . . . . . g.26115
ggatttgtcggcttttatgtaatctgtaatatgtatagcaggaaatacgaagagttacac c.*660
. . . . . . g.26175
agtgtatgccttaaaaggctgtttcttaaaggtgttacaaggggataatggtatttcaac c.*720
. . . . . . g.26235
tagttatcagcaagtgacaatacattccaccacaaatacactcttgttcttctagctttt c.*780
. . . . . . g.26295
agactatatgaaaaaaccgggtgcttcaaagtacatgataagggaacactatacctgtca c.*840
. . . . . . g.26355
tggatgaactgaagactttgcctgttcattttttaaatattattttcaggtcctttgctt c.*900
. . . . . . g.26415
accaaaggaggcccaatttcactcaaatgttttgagaactgtgtttaaataaacgcaaat c.*960
. . . . . . g.26475
gaaaagaaaaatgttggtgcagctgttcacaaagaagtgttcttgttctattataattag c.*1020
. . . . . . g.26535
agttcttctgtagtttaatcgttagggcagtgtgttccttgggctgaggtgtatctttgc c.*1080
. . . . . . g.26595
tattttgggctgggttgagggggggatgaatttctgtattcctggaaaattcagagtgca c.*1140
. . . . . . g.26655
taactaggtattagagtgatctccatttggggatggagttacagtaaataactagactgc c.*1200
. . . . . . g.26715
gggtactttaatacatgttcttattattttgcatttaagtaattttcatgaccaattgta c.*1260
. . . . . . g.26775
gggatgttgctacaggtgggttattttgttgccttgctaacctttatcgcatctaggtat c.*1320
. . . . . . g.26835
tagtatgtttcaggtactttgggaagaactttacatataatctttagcaatgaaatgatg c.*1380
. . . . . . g.26895
tagagtaacttaccttagttcaaatagctgtttaagtggcaatgccacgatctgaattga c.*1440
. . . . . . g.26955
acctaggtgatcttagtccacagttctcttgatcatgatgtctcaaatctgggtacctgg c.*1500
. . . . . . g.27015
gtgatggaaaataccagtaatggagcataggcagtattggcaggtcttaatttgtaaaac c.*1560
. . . . . . g.27075
ttactgtccagggtgttttcagtgtttgccaacttgtggtaaattaatatgcttagagaa c.*1620
. . . . . . g.27135
ctacccttaggtttgtttctgataagcatgtggaaacaacttagtatatgcctgatgggt c.*1680
. . . . . . g.27195
tatttcaaattgttctcaatgagttttgaaacaagaatttgtagtatttatatataaagt c.*1740
. . . . . . g.27255
tgagttttagggtgtggtcccagagggggttgtgttatggatggatacattaaaggctga c.*1800
. . . . . . g.27315
gaaacctggttttatcgtggtagtatatacaggcatcctttcctgaagtaactacattct c.*1860
. . . . . . g.27375
ccaccattttctccccaaccaaacctctccccatcagttaactgatggcttgcgagttca c.*1920
. . . . . . g.27435
cactcctgataatctcgaacataaccctcggtttctatcctaaagcctgagttttagccc c.*1980
. . . . . . g.27495
tttagttgtgtagccatcctttatcctgctgattgaaagtttccttttttaggctagttt c.*2040
. . . . . . g.27555
gagttgttttctggcttttagatttgaaagaattttagccatttgacatggctacaaaga c.*2100
. . . . . . g.27615
gtgttaacaggcaaaagactgaggaaaatttggaattttaccaagttgagatagactgag c.*2160
. . . . . . g.27675
aagtagtgagacaaagtggtagtcttttgatgtgctgtaatgctagtcgccagtttcatg c.*2220
. . . . . . g.27735
aaagggaggcagcagttacccgtaggtaacccctaggtaactgctgccatgggcagctga c.*2280
. . . . . . g.27795
atcagacaaaagccatgggaaaggataaatttgagtcttaaagttactgcctcaaggcaa c.*2340
. . . . . . g.27855
agggacttggaggcttttatatgccaatacaaacaatccatttcttatagctgtagggct c.*2400
. . . . . . g.27915
gagactactaaaaccaaatgtaaagttcatttggaagattgctaagttaaatagttttat c.*2460
. . . . . . g.27975
actaggcttttgtgaaacttctcaggaaatcaacagggtcccagcaagtggaaataaggc c.*2520
. . . . . . g.28035
tgtgtcaaaagatttgtagacctgggagcaggggtttccgatctcctggccatggattgc c.*2580
. . . . . . g.28095
ctgagctccgccgcctgtcagatcagcaacagcagattttcatagcaggaatcctattgt c.*2640
. . . . . . g.28155
gaagtgcgcttgagagggatctagcttgcacatttccttatggaaatctaactacatgtt c.*2700
. . . . . . g.28215
agagaatgctcaaggtctgcaatgtttacattgttgcccctacataaggaatatatgcct c.*2760
. . . . . . g.28275
taagataaaactaatagctcttagccctcttacaccattgactaggattccaattctgca c.*2820
. . . . . . g.28335
aggcccaggaggagaaattgagaattagaagtttcaccgagaagaaataaaaagatttgg c.*2880
. . . . . . g.28395
tttgcattatcaaaatttctgtaaattatatggaaattttgaggatggattaggctggat c.*2940
. . . . . . g.28455
ttattagcagtggacacgcctccaatattccttcagcatgccatctcagtggattttgat c.*3000
. . . . . . g.28515
tggctcttgtaggattggacttaatgctagcttatgccaaatgtcatcaaaaagccagaa c.*3060
. . . . . . g.28575
tgctactacagtaatgtaaaggattattgtatatagtgtaaaggattattatgtgtaatc c.*3120
. . g.28602
tttaatatataatgtaaagacttaaaa c.*3147
(downstream sequence)
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