Canonical Allele Identifier: CA755935277

Gene:

Linked Data

• dbSNP Id: rs1370232221
• gnomAD v3: 2-120332028-T-C
• gnomAD v4: 2-120332028-T-C
• MyVariant Identifiers: chr2:g.121089604T>C (hg19) ; chr2:g.120332028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332028T>C , CM000664.2:g.120332028T>C	GRCh38
NC_000002.11:g.121089604T>C , CM000664.1:g.121089604T>C	GRCh37
NC_000002.10:g.120806074T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3222T>C	XP_011510609.1:n.141+3222T>C