Canonical Allele Identifier: CA54648306

Gene:

Linked Data

• dbSNP Id: rs376018523
• gnomAD v2: 2-121089612-A-G
• gnomAD v3: 2-120332036-A-G
• gnomAD v4: 2-120332036-A-G
• MyVariant Identifiers: chr2:g.121089612A>G (hg19) ; chr2:g.120332036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332036A>G , CM000664.2:g.120332036A>G	GRCh38
NC_000002.11:g.121089612A>G , CM000664.1:g.121089612A>G	GRCh37
NC_000002.10:g.120806082A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3230A>G	XP_011510609.1:n.141+3230A>G