(used for variant description)
(last modified September 9, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000211.3 in the ITGB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering ITGB2 transcript NM_000211.3.
(upstream sequence)
. . . . . g.12841
gggccgctctctgacatcagagctgctgtagagcggagaggggcaggggtgaa c.-181
. . . . . . g.12901
gggccacggtggtgcaacccaccacttcctccaaggaggagctgagaggaacaggaagtg c.-121
. . . . . . g.12961
tcaggactttacgacccgcgcctccagctgaggtttctagacgtgacccagggcagactg c.-61
. . . . . . | 02 g.23056
gtagcaaagcccccacgcccagccaggagcaccgccgaggactccagcacaccgagg | gac c.-1
. . . . . | 03 g.23468
ATGCTGGGCCTGCGCCCCCCACTGCTCGCCCTGGTGGGGCTGCTCTCCCTCGGGTGCG | TC c.60
M L G L R P P L L A L V G L L S L G C V | p.20
. . . . . . g.23528
CTCTCTCAGGAGTGCACGAAGTTCAAGGTCAGCAGCTGCCGGGAATGCATCGAGTCGGGG c.120
L S Q E C T K F K V S S C R E C I E S G p.40
. . | 04. . . . g.26776
CCCGGCTGCACCTGGTGCCAGAAGCTG | AACTTCACAGGGCCGGGGGATCCTGACTCCATT c.180
P G C T W C Q K L | N F T G P G D P D S I p.60
. . . . . . g.26836
CGCTGCGACACCCGGCCACAGCTGCTCATGAGGGGCTGTGCGGCTGACGACATCATGGAC c.240
R C D T R P Q L L M R G C A A D D I M D p.80
. . . . . . g.26896
CCCACAAGCCTCGCTGAAACCCAGGAAGACCACAATGGGGGCCAGAAGCAGCTGTCCCCA c.300
P T S L A E T Q E D H N G G Q K Q L S P p.100
. . | 05 . . . g.30335
CAAAAAGTGACGCTTTACCTGCGACCAG | GCCAGGCAGCAGCGTTCAACGTGACCTTCCGG c.360
Q K V T L Y L R P G | Q A A A F N V T F R p.120
. . . . . . g.30395
CGGGCCAAGGGCTACCCCATCGACCTGTACTATCTGATGGACCTCTCCTACTCCATGCTT c.420
R A K G Y P I D L Y Y L M D L S Y S M L p.140
. . . . . . g.30455
GATGACCTCAGGAATGTCAAGAAGCTAGGTGGCGACCTGCTCCGGGCCCTCAACGAGATC c.480
D D L R N V K K L G G D L L R A L N E I p.160
. | 06 . . . . g.32146
ACCGAGTCCGGCCGCATTG | GCTTCGGGTCCTTCGTGGACAAGACCGTGCTGCCGTTCGTG c.540
T E S G R I G | F G S F V D K T V L P F V p.180
. . . . . . g.32206
AACACGCACCCTGATAAGCTGCGAAACCCATGCCCCAACAAGGAGAAAGAGTGCCAGCCC c.600
N T H P D K L R N P C P N K E K E C Q P p.200
. . . . . . g.32266
CCGTTTGCCTTCAGGCACGTGCTGAAGCTGACCAACAACTCCAACCAGTTTCAGACCGAG c.660
P F A F R H V L K L T N N S N Q F Q T E p.220
. . . . . . g.32326
GTCGGGAAGCAGCTGATTTCCGGAAACCTGGATGCACCCGAGGGTGGGCTGGACGCCATG c.720
V G K Q L I S G N L D A P E G G L D A M p.240
. . | 07 . . . . g.33402
ATGCAGGTCGCCGCCTGCCCG | GAGGAAATCGGCTGGCGCAACGTCACGCGGCTGCTGGTG c.780
M Q V A A C P | E E I G W R N V T R L L V p.260
. . . . . . g.33462
TTTGCCACTGATGACGGCTTCCATTTCGCGGGCGACGGGAAGCTGGGCGCCATCCTGACC c.840
F A T D D G F H F A G D G K L G A I L T p.280
. . . . . | 08. g.34679
CCCAACGACGGCCGCTGTCACCTGGAGGACAACTTGTACAAGAGGAGCAACGAATTC | GAC c.900
P N D G R C H L E D N L Y K R S N E F | D p.300
. . . . . . g.34739
TACCCATCGGTGGGCCAGCTGGCGCACAAGCTGGCTGAAAACAACATCCAGCCCATCTTC c.960
Y P S V G Q L A H K L A E N N I Q P I F p.320
. . . | 09 . . . g.38805
GCGGTGACCAGTAGGATGGTGAAGACCTACGAG | AAACTCACCGAGATCATCCCCAAGTCA c.1020
A V T S R M V K T Y E | K L T E I I P K S p.340
. . . . . . g.38865
GCCGTGGGGGAGCTGTCTGAGGACTCCAGCAATGTGGTCCAACTCATTAAGAATGCTTAC c.1080
A V G E L S E D S S N V V Q L I K N A Y p.360
| 10 . . . . . . g.40351
AAT | AAACTCTCCTCCAGGGTCTTCCTGGATCACAACGCCCTCCCCGACACCCTGAAAGTC c.1140
N | K L S S R V F L D H N A L P D T L K V p.380
. . . . . . g.40411
ACCTACGACTCCTTCTGCAGCAATGGAGTGACGCACAGGAACCAGCCCAGAGGTGACTGT c.1200
T Y D S F C S N G V T H R N Q P R G D C p.400
. . | 11 . . . . g.41878
GATGGCGTGCAGATCAATGTCCCG | ATCACCTTCCAGGTGAAGGTCACGGCCACAGAGTGC c.1260
D G V Q I N V P | I T F Q V K V T A T E C p.420
. . . . . . g.41938
ATCCAGGAGCAGTCGTTTGTCATCCGGGCGCTGGGCTTCACGGACATAGTGACCGTGCAG c.1320
I Q E Q S F V I R A L G F T D I V T V Q p.440
. . . . . . g.41998
GTTCTTCCCCAGTGTGAGTGCCGGTGCCGGGACCAGAGCAGAGACCGCAGCCTCTGCCAT c.1380
V L P Q C E C R C R D Q S R D R S L C H p.460
. . . | 12 . . . g.43644
GGCAAGGGCTTCTTGGAGTGCGGCATCTGCAG | GTGTGACACTGGCTACATTGGGAAAAAC c.1440
G K G F L E C G I C R | C D T G Y I G K N p.480
. . . . . . g.43704
TGTGAGTGCCAGACACAGGGCCGGAGCAGCCAGGAGCTGGAAGGAAGCTGCCGGAAGGAC c.1500
C E C Q T Q G R S S Q E L E G S C R K D p.500
. . . . . . g.43764
AACAACTCCATCATCTGCTCAGGGCTGGGGGACTGTGTCTGCGGGCAGTGCCTGTGCCAC c.1560
N N S I I C S G L G D C V C G Q C L C H p.520
. . . . . . g.43824
ACCAGCGACGTCCCCGGCAAGCTGATATACGGGCAGTACTGCGAGTGTGACACCATCAAC c.1620
T S D V P G K L I Y G Q Y C E C D T I N p.540
. . . | 13. . . g.44366
TGTGAGCGCTACAACGGCCAGGTCTGCGGCGGCCCGG | GGAGGGGGCTCTGCTTCTGCGGG c.1680
C E R Y N G Q V C G G P G | R G L C F C G p.560
. . . . . . g.44426
AAGTGCCGCTGCCACCCGGGCTTTGAGGGCTCAGCGTGCCAGTGCGAGAGGACCACTGAG c.1740
K C R C H P G F E G S A C Q C E R T T E p.580
. . . . . . g.44486
GGCTGCCTGAACCCGCGGCGTGTTGAGTGTAGTGGTCGTGGCCGGTGCCGCTGCAACGTA c.1800
G C L N P R R V E C S G R G R C R C N V p.600
. . . . . . g.44546
TGCGAGTGCCATTCAGGCTACCAGCTGCCTCTGTGCCAGGAGTGCCCCGGCTGCCCCTCA c.1860
C E C H S G Y Q L P L C Q E C P G C P S p.620
. | 14. . . . . g.44986
CCCTGTGGCAAGTACAT | CTCCTGCGCCGAGTGCCTGAAGTTCGAAAAGGGCCCCTTTGGG c.1920
P C G K Y I | S C A E C L K F E K G P F G p.640
. . . . . . g.45046
AAGAACTGCAGCGCGGCGTGTCCGGGCCTGCAGCTGTCGAACAACCCCGTGAAGGGCAGG c.1980
K N C S A A C P G L Q L S N N P V K G R p.660
. . . . . . g.45106
ACCTGCAAGGAGAGGGACTCAGAGGGCTGCTGGGTGGCCTACACGCTGGAGCAGCAGGAC c.2040
T C K E R D S E G C W V A Y T L E Q Q D p.680
. . . . | 15 . . g.46956
GGGATGGACCGCTACCTCATCTATGTGGATGAGAGCCGAG | AGTGTGTGGCAGGCCCCAAC c.2100
G M D R Y L I Y V D E S R E | C V A G P N p.700
. . . . . . g.47016
ATCGCCGCCATCGTCGGGGGCACCGTGGCAGGCATCGTGCTGATCGGCATTCTCCTGCTG c.2160
I A A I V G G T V A G I V L I G I L L L p.720
. . . . . . g.47076
GTCATCTGGAAGGCTCTGATCCACCTGAGCGACCTCCGGGAGTACAGGCGCTTTGAGAAG c.2220
V I W K A L I H L S D L R E Y R R F E K p.740
. . | 16. . . . g.47441
GAGAAGCTCAAGTCCCAGTGGAACAAT | GATAATCCCCTTTTCAAGAGCGCCACCACGACG c.2280
E K L K S Q W N N | D N P L F K S A T T T p.760
. . . g.47471
GTCATGAACCCCAAGTTTGCTGAGAGTTAG c.2310
V M N P K F A E S X p.769
. . . . . . g.47531
gagcacttggtgaagacaaggccgtcaggacccaccatgtctgccccatcacgcggccga c.*60
. . . . . . g.47591
gacatggcttgccacagctcttgaggatgtcaccaattaaccagaaatccagttattttc c.*120
. . . . . . g.47651
cgccctcaaaatgacagccatggccggccgggtgcttctgggggctcgtcggggggacag c.*180
. . . . . . g.47711
ctccactctgactggcacagtctttgcatggagacttgaggagggagggcttgaggttgg c.*240
. . . . . . g.47771
tgaggttaggtgcgtgtttcctgtgcaagtcaggacatcagtctgattaaaggtggtgcc c.*300
. . . . . . g.47831
aatttatttacatttaaacttgtcagggtataaaatgacatcccattaattatattgtta c.*360
. . . . . g.47886
atcaatcacgtgtatagaaaaaaaataaaacttcaatacaggctgtccatggaaa c.*415
(downstream sequence)
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