Canonical Allele Identifier: CA2638213254
Gene: ITGA2B HGNC NCBI

Linked Data

gnomAD v4: 17-44372220-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372220T>G , CM000679.2:g.44372220T>G GRCh38
NC_000017.10:g.42449588T>G , CM000679.1:g.42449588T>G GRCh37
NC_000017.9:g.39805114T>G NCBI36
NG_008331.1:g.22286A>C , LRG_479:g.22286A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.*144A>C MANE Select ENSP00000262407.5:n.*144A>C
ENST00000648408.1:c.2578A>C
ENST00000262407.5:c.*144A>C ENSP00000262407.5:n.*144A>C
ENST00000587295.5:c.457A>C
ENST00000588098.1:c.241A>C
NM_000419.3:c.*144A>C , LRG_479t1:c.*144A>C NP_000410.2:n.*144A>C
XM_011524749.1:c.*144A>C XP_011523051.1:n.*144A>C
XM_011524750.1:c.*144A>C XP_011523052.1:n.*144A>C
NM_000419.4:c.*144A>C NP_000410.2:n.*144A>C
NM_000419.5:c.*144A>C MANE Select NP_000410.2:n.*144A>C
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