(used for variant description)
(last modified November 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_007279.2 in the U2AF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032904.1, covering U2AF2 transcript NM_007279.2.
(upstream sequence)
. . . g.5035
ggagagcgcgccacagaacgacttttacgcaggcg c.-1021
. . . . . . g.5095
cagaagcctgtttcccctcacccgcggcttccaccctgcgcaggcgcaaaaagccgcgct c.-961
. . . . . . g.5155
ggcaacctccgcagcggtcgcgcgcacccttcacccctcttgctgcttttgtctggcaca c.-901
. . . . . . g.5215
accttctcaggccctccgcgaggccggccctttttttctttcactttccccacccggaga c.-841
. . . . . . g.5275
gccaggtgccgagaactaggacctcgtccccttctctatcccttcccctgatccatctcg c.-781
. . . . . . g.5335
tctctgttctccttcccttttccgttcccgaagccggaaggagccgaggtacccacggaa c.-721
. . . . . . g.5395
aaagtcgaagctgtccccggagagtgaggccttcacgaagcggtggcggaaggagccgaa c.-661
. . . . . . g.5455
gttctctgatcggaggcgtgagcaagtggcatctccggaaagagccgaaacacggactcg c.-601
. . . . . . g.5515
agcttaatcccaggaggggcccgagggcgagatccggaaatctccggaaagagccgaagg c.-541
. . . . . . g.5575
ccgggacggttaggattgtcggaagtggccgattgcttggacagggccggcggagaagat c.-481
. . . . . . g.5635
cggagcaagtccgtggaagaagccaaagactgggacggattgaattgttggaagaacccg c.-421
. . . . . . g.5695
aactcgcagaggggactgggcgcagtggcacacgaggacacacggaaacctccgaacgtt c.-361
. . . . . . g.5755
gaggagataatctcggaaaagttacggaaacctgggaagtcggcgaaaccctacgttcgg c.-301
. . . . . . g.5815
gtgttttcggaagcagccgaagcggccgcctgcttcgccttcgtccagtatccggagata c.-241
. . . . . . g.5875
gccgaggcgcttcggagccaggctcggggggaggggcaagctcgcgggcgggcgggcggg c.-181
. . . . . . g.5935
tgagggggcggagcccgggcggggcggggagggctgccggaggcttgattaggtaggagg c.-121
. . . . . . g.5995
tggcgaagcgccggcggcggccggaagtagccgaagccagcggcggaagtagccgaagcg c.-61
. . . . . . g.6055
gctggagcgggcggcaaggcgaggcgaaagctgcacagggccctacgcggccgcctcagc c.-1
. . . . | 02 . g.10171
ATGTCGGACTTCGACGAGTTCGAGCGGCAGCTCAACGAGAATAAACAAG | AGCGGGACAAG c.60
M S D F D E F E R Q L N E N K Q E | R D K p.20
. . . . . . g.10231
GAGAACCGGCATCGGAAGCGCAGCCACAGCCGCTCTCGGAGCCGGGACCGCAAACGCCGG c.120
E N R H R K R S H S R S R S R D R K R R p.40
. . . . . . g.10291
AGCCGGAGCCGCGACCGGCGCAACCGGGACCAGCGGAGCGCCTCCCGGGACAGGCGACGA c.180
S R S R D R R N R D Q R S A S R D R R R p.60
| 03 . . . . . | 04 . g.11476
CGCAG | CAAACCTTTGACCAGAGGCGCTAAAGAGGAGCACGGTGGACTGAT | TCGTTCCCCC c.240
R S | K P L T R G A K E E H G G L I | R S P p.80
. . . . . . g.11536
CGCCACGAGAAGAAGAAGAAGGTCCGTAAATACTGGGACGTGCCACCCCCAGGCTTTGAG c.300
R H E K K K K V R K Y W D V P P P G F E p.100
. . . | 05 . . . g.12014
CACATCACCCCAATGCAGTACAAGGCCATGCAAG | CTGCGGGTCAGATTCCAGCCACTGCT c.360
H I T P M Q Y K A M Q A | A G Q I P A T A p.120
. . . . . . g.12074
CTTCTCCCCACCATGACCCCTGACGGTCTGGCTGTGACCCCAACGCCGGTGCCCGTGGTC c.420
L L P T M T P D G L A V T P T P V P V V p.140
. . . . . . g.12134
GGGAGCCAGATGACCAGACAAGCCCGGCGCCTCTACGTGGGCAACATCCCCTTTGGCATC c.480
G S Q M T R Q A R R L Y V G N I P F G I p.160
| 06 . . . . . . g.13506
ACTGAG | GAGGCCATGATGGATTTCTTCAACGCCCAGATGCGCCTGGGGGGGCTGACCCAG c.540
T E | E A M M D F F N A Q M R L G G L T Q p.180
. . . . . . g.13566
GCCCCTGGCAACCCAGTGTTGGCTGTGCAGATTAACCAGGACAAGAATTTTGCCTTTTTG c.600
A P G N P V L A V Q I N Q D K N F A F L p.200
| 07 . . . . . . g.14613
GAG | TTCCGCTCAGTGGACGAGACTACCCAGGCTATGGCCTTTGATGGCATCATCTTCCAG c.660
E | F R S V D E T T Q A M A F D G I I F Q p.220
. . . . . . g.14673
GGCCAGTCACTAAAGATCCGCAGGCCTCACGACTACCAGCCGCTTCCTGGCATGTCAGAG c.720
G Q S L K I R R P H D Y Q P L P G M S E p.240
. . | 08 . . . . g.19495
AACCCCTCCGTCTATGTGCCTG | GGGTTGTGTCCACTGTGGTCCCCGACTCTGCCCACAAG c.780
N P S V Y V P G | V V S T V V P D S A H K p.260
. . . . | 09 . . g.19638
CTGTTCATCGGGGGCTTACCCAACTACCTGAACGATGACCAG | GTCAAAGAGCTGCTGACA c.840
L F I G G L P N Y L N D D Q | V K E L L T p.280
. . . . . . g.19698
TCCTTTGGGCCCCTCAAGGCCTTCAACCTGGTCAAGGACAGTGCCACGGGGCTCTCCAAG c.900
S F G P L K A F N L V K D S A T G L S K p.300
. . . . | 10 . . g.20048
GGCTACGCCTTCTGTGAGTACGTGGACATCAACGTCACGGATCAG | GCCATTGCGGGGCTG c.960
G Y A F C E Y V D I N V T D Q | A I A G L p.320
. . . . . . g.20108
AACGGCATGCAGCTGGGGGATAAGAAGCTGCTGGTCCAGAGGGCGAGTGTGGGAGCCAAG c.1020
N G M Q L G D K K L L V Q R A S V G A K p.340
. . | 11 . . . . g.20430
AATGCCACGCTGGTGAGCCCCCCG | AGCACCATCAATCAGACGCCTGTGACCCTGCAAGTG c.1080
N A T L V S P P | S T I N Q T P V T L Q V p.360
. . . . . . g.20490
CCGGGCTTGATGAGCTCCCAGGTGCAGATGGGCGGCCACCCGACTGAGGTCCTGTGCCTC c.1140
P G L M S S Q V Q M G G H P T E V L C L p.380
. . . . . . g.20550
ATGAACATGGTGCTGCCTGAGGAGCTGCTGGACGACGAGGAGTATGAGGAGATCGTGGAG c.1200
M N M V L P E E L L D D E E Y E E I V E p.400
. . . . . . g.20610
GATGTGCGGGACGAGTGCAGCAAGTACGGGCTTGTCAAGTCCATCGAGATCCCCCGGCCT c.1260
D V R D E C S K Y G L V K S I E I P R P p.420
. . . | 12 . . . g.24911
GTGGACGGCGTCGAGGTGCCCGGCTGCGGAAAG | ATCTTTGTGGAGTTCACCTCTGTGTTT c.1320
V D G V E V P G C G K | I F V E F T S V F p.440
. . . . . . g.24971
GACTGCCAGAAAGCCATGCAGGGCCTGACGGGCCGCAAGTTCGCCAACAGAGTGGTTGTC c.1380
D C Q K A M Q G L T G R K F A N R V V V p.460
. . . . g.25019
ACAAAATACTGTGACCCCGACTCTTATCACCGCCGGGACTTCTGGTAG c.1428
T K Y C D P D S Y H R R D F W X p.475
. . . . . . g.25079
aggcggctgggggagggtgggggcagggctggctgggggcttctccccactcccgccccc c.*60
. . . . . . g.25139
cccttatccccctctgaagacgatgggcagaggagtgacagccgcagacacacgacagcc c.*120
. . . . . . g.25199
ggcagcaactggaatggcagcaattaagggtggggggcgggggttggggggttggggggt c.*180
. . . . . . g.25259
tagggcagggaggggactggggaagtgcgcacacagcccacacagacaacacgcacccac c.*240
. . . . . . g.25319
acagacacagagggaaggggttgggatggggacagggtgcacagcagggcggggtaggac c.*300
. . . . . . g.25379
cccagcccctcccaaaacagcctctccttctcccatagacccctttcttctccccttccc c.*360
. . . . . . g.25439
cacggtaggaacatagcgtgtttatattttatggccaaactattttgaattttgttgtcc c.*420
. . . . . . g.25499
ggccctcagtgccctgccctctcccttaccaggaccacagctctgttccttcggcctctg c.*480
. . . . . . g.25559
gtcctctctggtcccctcctgggtttcttacgtagttgatttttcctctttagtctcccc c.*540
. . . . . . g.25619
cgacctgcgcccagccccgtggcccctgcccctctcctactctctgtggcagtttcatat c.*600
. . . . g.25667
ttgctaagacgaatttgctcattaaacattttgttgtattttacttta c.*648
(downstream sequence)
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