(used for variant description)
(last modified May 5, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_015093.4 in the TAB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering TAB2 transcript NM_015093.4.
(upstream sequence)
g.5001
a c.-421
. . . . . . g.5061
tcgagcgcctaggagagccccgggtgggggagggcgcaaggggctcgggagggcccctcc c.-361
. . . | 02 . . g.22290
ctgcgtcggcgcccctgacccgcccccag | aggcagggttttgctgtattgcacaggctag c.-301
. . . . . . g.22350
tctcaaactccttggctcaagtgatcctcttgctttggtctcccaaagtgctgcgattac c.-241
. | 03 . . . . . g.29443
ag | gctccagacccagttcctggacctgccctggaaaagaagtatcccgtagagatgagct c.-181
. . . . . . g.29503
cactgcagttacttaattaacaatttgtaagctgcaaaaatggcaatgggccaaccaaga c.-121
. . . . | 04 . . g.56638
acagctacaatttgaatttttctatttccag | aaaatgcttggacagaagagatgagtact c.-61
. . . . . . g.56698
atttccactaaggcctagaattgcctactgtacaaatagtcctgatcaggcaatatacga c.-1
. . . . . . g.56758
ATGGCCCAAGGAAGCCACCAAATTGATTTTCAGGTTTTACATGACCTGCGACAAAAATTC c.60
M A Q G S H Q I D F Q V L H D L R Q K F p.20
. . . . | 05 . . g.64736
CCTGAAGTACCTGAAGTTGTTGTATCCAGGTGCATGTTACAG | AATAATAATAACCTGGAT c.120
P E V P E V V V S R C M L Q | N N N N L D p.40
. . . . . . g.64796
GCCTGCTGTGCTGTTCTCTCTCAGGAGAGTACAAGATATCTTTATGGTGAAGGAGACTTG c.180
A C C A V L S Q E S T R Y L Y G E G D L p.60
. . . . . . g.64856
AATTTTTCAGATGATTCTGGAATTTCTGGTCTACGCAATCACATGACTTCTCTCAACTTG c.240
N F S D D S G I S G L R N H M T S L N L p.80
. . . . . . g.64916
GACTTGCAATCACAGAACATTTACCACCATGGAAGAGAAGGAAGTAGGATGAATGGAAGT c.300
D L Q S Q N I Y H H G R E G S R M N G S p.100
. . . . . . g.64976
AGGACTCTAACGCACAGCATTAGTGATGGACAACTTCAAGGTGGCCAGTCCAATAGTGAA c.360
R T L T H S I S D G Q L Q G G Q S N S E p.120
. . . . . . g.65036
CTATTTCAGCAGGAGCCACAGACAGCACCAGCTCAAGTTCCTCAAGGCTTTAATGTTTTT c.420
L F Q Q E P Q T A P A Q V P Q G F N V F p.140
. . . . . . g.65096
GGAATGTCCAGTTCCTCTGGTGCTTCAAATTCAGCACCACATCTTGGATTTCACTTAGGC c.480
G M S S S S G A S N S A P H L G F H L G p.160
. . . . . . g.65156
AGCAAAGGAACATCTAGCCTTTCTCAACAAACTCCCAGATTTAATCCCATTATGGTAACT c.540
S K G T S S L S Q Q T P R F N P I M V T p.180
. . . . . . g.65216
TTAGCCCCAAATATCCAGACTGGTCGTAATACTCCTACATCTTTGCACATACATGGTGTA c.600
L A P N I Q T G R N T P T S L H I H G V p.200
. . . . . . g.65276
CCTCCACCTGTACTTAACAGTCCACAGGGAAATTCTATCTATATTAGGCCTTACATTACA c.660
P P P V L N S P Q G N S I Y I R P Y I T p.220
. . . . . . g.65336
ACTCCTGGTGGTACAACTCGACAGACACAACAGCATTCTGGCTGGGTATCTCAGTTTAAT c.720
T P G G T T R Q T Q Q H S G W V S Q F N p.240
. . . . . . g.65396
CCCATGAACCCTCAGCAAGTTTATCAGCCTTCACAGCCTGGTCCCTGGACTACTTGTCCT c.780
P M N P Q Q V Y Q P S Q P G P W T T C P p.260
. . . . . . g.65456
GCATCTAATCCTCTGTCACATACCTCATCTCAACAGCCAAATCAGCAAGGCCACCAGACC c.840
A S N P L S H T S S Q Q P N Q Q G H Q T p.280
. . . . . . g.65516
TCTCATGTCTACATGCCAATCAGTTCACCTACTACTTCACAACCACCAACCATTCATTCA c.900
S H V Y M P I S S P T T S Q P P T I H S p.300
. . . . . . g.65576
TCTGGTAGCTCACAGTCTTCTGCCCATAGCCAATATAACATTCAGAATATTTCAACAGGA c.960
S G S S Q S S A H S Q Y N I Q N I S T G p.320
. . . . . . g.65636
CCTCGAAAAAACCAGATTGAAATCAAACTTGAACCCCCACAAAGAAATAATTCTTCAAAA c.1020
P R K N Q I E I K L E P P Q R N N S S K p.340
. . . . . . g.65696
CTGCGTTCTTCTGGACCTCGAACCTCCAGCACTTCCTCTTCAGTCAATAGCCAGACCTTA c.1080
L R S S G P R T S S T S S S V N S Q T L p.360
. . . . . . g.65756
AACAGAAATCAGCCCACTGTTTACATAGCTGCCAGCCCCCCAAATACGGATGAGCTGATG c.1140
N R N Q P T V Y I A A S P P N T D E L M p.380
. . . . . . g.65816
TCCCGTAGTCAACCTAAGGTCTATATTTCAGCGAATGCTGCCACAGGAGATGAACAGGTC c.1200
S R S Q P K V Y I S A N A A T G D E Q V p.400
. . . . . . g.65876
ATGCGGAATCAGCCCACACTCTTCATATCCACAAACTCTGGAGCATCTGCTGCCTCCAGG c.1260
M R N Q P T L F I S T N S G A S A A S R p.420
. . . . . . g.65936
AACATGTCTGGGCAAGTGAGCATGGGTCCTGCCTTTATTCATCACCATCCTCCCAAAAGT c.1320
N M S G Q V S M G P A F I H H H P P K S p.440
. . . . . . g.65996
CGAGCAATAGGCAATAACTCTGCAACCTCTCCTCGAGTGGTAGTCACTCAGCCCAATACG c.1380
R A I G N N S A T S P R V V V T Q P N T p.460
. . . . . . g.66056
AAATACACTTTCAAAATTACAGTCTCTCCCAATAAGCCCCCTGCAGTTTCACCAGGGGTG c.1440
K Y T F K I T V S P N K P P A V S P G V p.480
. . . . . . g.66116
GTGTCCCCTACCTTTGAACTTACAAATCTTCTTAATCATCCTGATCATTATGTAGAAACC c.1500
V S P T F E L T N L L N H P D H Y V E T p.500
. . . . . . g.66176
GAGAATATTCAGCACCTCACGGACCCTACATTAGCACATGTGGATAGAATAAGTGAAACA c.1560
E N I Q H L T D P T L A H V D R I S E T p.520
. . . . | 06 . . g.84321
CGGAAACTGAGTATGGGATCTGATGATGCTGCCTACACACAAG | CTCTTTTGGTACACCAG c.1620
R K L S M G S D D A A Y T Q A | L L V H Q p.540
. . . . . . g.84381
AAGGCCAGAATGGAACGACTTCAAAGAGAACTTGAGATTCAAAAGAAAAAGCTGGATAAA c.1680
K A R M E R L Q R E L E I Q K K K L D K p.560
. . . . . . g.84441
TTAAAATCTGAGGTTAATGAAATGGAAAATAATCTAACTCGAAGGCGCCTGAAAAGATCA c.1740
L K S E V N E M E N N L T R R R L K R S p.580
. . | 07 . . . . g.84705
AATTCTATATCCCAGATACCTTCC | CTTGAAGAAATGCAGCAGCTGAGAAGTTGTAATAGA c.1800
N S I S Q I P S | L E E M Q Q L R S C N R p.600
. . . . . | 08 g.85806
CAACTCCAGATTGACATTGACTGCTTAACCAAAGAAATTGATCTTTTTCAAGCCCGAG | GA c.1860
Q L Q I D I D C L T K E I D L F Q A R G | p.620
. . . . . . g.85866
CCACATTTTAACCCCAGCGCTATTCATAACTTTTATGACAATATTGGATTTGTAGGTCCT c.1920
P H F N P S A I H N F Y D N I G F V G P p.640
. | 09 . . . . g.96318
GTGCCACCAAAACCCAAAG | ATCAAAGGTCCATCATCAAAACACCAAAGACTCAAGACACA c.1980
V P P K P K D | Q R S I I K T P K T Q D T p.660
. . . . . . g.96378
GAAGATGATGAGGGAGCTCAGTGGAATTGTACCGCCTGTACTTTTTTGAACCATCCAGCC c.2040
E D D E G A Q W N C T A C T F L N H P A p.680
. . . . g.96420
TTAATTCGCTGTGAACAGTGTGAGATGCCAAGGCATTTCTGA c.2082
L I R C E Q C E M P R H F X p.693
. . . . . . g.96480
gccaaatggccctgtatcttctctaaaaccacatctaaagttcaagaaactagtctgtca c.*60
. . . . . . g.96540
tcgggaaaaagtttcactgctacataggattttgtcaaattgaaggtgtgacaagatggt c.*120
. . . . . . g.96600
gttctgctaatgttaaatgtcagcccacagagctaataatacctcagtataatgtcatga c.*180
. . . . . . g.96660
gcagttgaaattcatcacatgaaaagtaatctgctgaaagacttggttgcccactgccta c.*240
. . . . . . g.96720
actgtgtacagtgttaccagtgtcccattatggataattctcaatatgttaacacctagg c.*300
. . . . . . g.96780
tgttcccaatacctttttcccctcatgtcactactgaattttgacaggaggaaggaatag c.*360
. . . . . . g.96840
aatgatagcttgttttatttgtaaagctttcagtgaaacactacatacacgaagaaaagg c.*420
. . . . . . g.96900
aacaaggtttaactatttaagaaccatttgctgccgcatagtgccattggatagggaaga c.*480
. . . . . . g.96960
acttcagaaatctgtggtactcttggccttgtctttgtcttccctgaacgtgtctccact c.*540
. . . . . . g.97020
ctgtgaagccagcatctaggggctaaagatgcaaaggaaagcagcatgcattgtctgtac c.*600
. . . . . . g.97080
aaatgtgcagcgaaataccccaaagcttttcctactgtacagatctctcgagtctgcttt c.*660
. . . . . . g.97140
aagtgatttcttttcttcttgattattttcttatatttctatatgtatagtgtaatagcc c.*720
. . . . . . g.97200
ttttgttaactaattttcttttttccttttagtaattaagcacgatcatgtcccttttta c.*780
. . . . . . g.97260
agccttacctgagaggaacaatgccttaaaataaaaaagcattaatgagatgaaagtatg c.*840
. . . . . . g.97320
cacagaataactttcctctacttattctgtactttgccctcatgagttccaatgttgtgt c.*900
. . . . . . g.97380
gaagacaggcagatgctgcacagtgaattgcagatgatattacagaagtgatgtctgtag c.*960
. . . . . . g.97440
gtcacattaaatactgacttgagcagtgggtgacacaacacagtgtttgtcttccacagg c.*1020
. . . . . . g.97500
gaagcttaaaacaaaagatatttttaacccactgacagaacaacaaggttaagcttcatc c.*1080
. . . . . . g.97560
tgcttggtgtcccacagaacttgcacaagcagttgttattgggaaagtacagtctcaaaa c.*1140
. . . . . . g.97620
ccagcaacagcagcagtacctacagccctttttttggagagaagtttaaatgctttactg c.*1200
. . . . . . g.97680
ttggggcagtccatttctaatcctgacttggtgacagtatcatgtgtatttataaaacaa c.*1260
. . . . . . g.97740
ggctagccatatttaggacaactgaagaaaagctggaaaaaaaaacaagcaaacttgaac c.*1320
. . . . . . g.97800
actgaagcaacctcaagcatctctttattttgatgatatatttttgtaaggaaaatattc c.*1380
. . . . . . g.97860
agatgatcaggaatgtatataactgaaatcaagaaaaagaacagtatgcatttaaaaaga c.*1440
. . . . . . g.97920
cagaattatgaaattatatgagtgcttagaatggggctaagggaagtgctgaaatagagc c.*1500
. . . . . . g.97980
aaaggatggaagataatatagactaccacccactgtaaatgtttgcaagtggctgtgttt c.*1560
. . . . . . g.98040
taaatgggattattacagttgatctctatgaatgtcagagccctaactttcaggctttgc c.*1620
. . . . . . g.98100
attttgtatatgggaagaaatatgacaatcctaggtaattaaaccatagacccaaagccc c.*1680
. . . . . . g.98160
ttacgtttgatgcaatttatttttaaaataggccttgtttttcagcttcatctgcagttc c.*1740
. . . . . . g.98220
tatgtgaagattgataaatcagtttttacttgttttattaataaaacgtaatttggatat c.*1800
. . . . . . g.98280
cttgagttgatggttttgtgatttagctgggtaaactatctttgtaacagataagttatt c.*1860
. . . g.98312
tataaaaattaaaaaacttatattctaatgtg c.*1892
(downstream sequence)
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