Canonical Allele Identifier: CA54648364

Gene:

Linked Data

• dbSNP Id: rs77160772
• gnomAD v2: 2-121089795-G-A
• gnomAD v3: 2-120332219-G-A
• gnomAD v4: 2-120332219-G-A
• MyVariant Identifiers: chr2:g.121089795G>A (hg19) ; chr2:g.120332219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332219G>A , CM000664.2:g.120332219G>A	GRCh38
NC_000002.11:g.121089795G>A , CM000664.1:g.121089795G>A	GRCh37
NC_000002.10:g.120806265G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3413G>A	XP_011510609.1:n.141+3413G>A