Canonical Allele Identifier: CA10650608
Gene: ITGB2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44920928A>G
GRCh37 chr21:g.46340843A>G
gnomAD v2:
21:46340843 A / G
gnomAD v3:
21:44920928 A / G
gnomAD v4:
chr21-44920928-A-G
Joint Max Group AF 0.30101028 (NFE)
Genomes Max Group AF 0.30118956 (NFE)
Exomes Max Group AF 0.17651147 (NFE)
ClinVar RCV:
RCV000285974
ClinVar Variation:
340189
dbSNP:
2070947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44920928A>G , CM000683.2:g.44920928A>G GRCh38
NC_000021.8:g.46340843A>G , CM000683.1:g.46340843A>G GRCh37
NC_000021.7:g.45165271A>G NCBI36
NG_007270.2:g.12911T>C , LRG_76:g.12911T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.9:c.-111T>C ENSP00000303242.5:n.-111T>C
ENST00000355153.8:c.-4+7726T>C ENSP00000347279.4:n.-4+7726T>C
ENST00000397850.6:c.-111T>C ENSP00000380948.2:n.-111T>C
ENST00000498666.5:n.33T>C
ENST00000517563.5:c.-111T>C ENSP00000428413.1:n.-111T>C
ENST00000517819.5:c.-111T>C ENSP00000428870.1:n.-111T>C
ENST00000521987.1:n.5T>C
ENST00000521995.1:c.-111T>C ENSP00000429683.1:n.-111T>C
ENST00000522688.5:c.-443T>C ENSP00000428125.1:n.-443T>C
NM_000211.4:c.-111T>C NP_000202.3:n.-111T>C
NM_001127491.2:c.-4+7726T>C NP_001120963.2:n.-4+7726T>C
NM_001303238.1:c.-361T>C NP_001290167.1:n.-361T>C
XM_006724001.1:c.-443T>C XP_006724064.1:n.-443T>C
XM_006724001.2:c.-443T>C XP_006724064.1:n.-443T>C
NM_001127491.3:c.-4+7726T>C NP_001120963.2:n.-4+7726T>C
Search 100 bp 5'
Search 100 bp 3'