Canonical Allele Identifier: CA54648334

Gene:

Linked Data

• dbSNP Id: rs114451013
• gnomAD v2: 2-121089682-T-C
• gnomAD v3: 2-120332106-T-C
• gnomAD v4: 2-120332106-T-C
• MyVariant Identifiers: chr2:g.121089682T>C (hg19) ; chr2:g.120332106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332106T>C , CM000664.2:g.120332106T>C	GRCh38
NC_000002.11:g.121089682T>C , CM000664.1:g.121089682T>C	GRCh37
NC_000002.10:g.120806152T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3300T>C	XP_011510609.1:n.141+3300T>C