Canonical Allele Identifier: CA54648371

Gene:

Linked Data

• dbSNP Id: rs1006713688
• gnomAD v3: 2-120332247-C-A
• gnomAD v4: 2-120332247-C-A
• MyVariant Identifiers: chr2:g.121089823C>A (hg19) ; chr2:g.120332247C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332247C>A , CM000664.2:g.120332247C>A	GRCh38
NC_000002.11:g.121089823C>A , CM000664.1:g.121089823C>A	GRCh37
NC_000002.10:g.120806293C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3441C>A	XP_011510609.1:n.141+3441C>A