Canonical Allele Identifier: CA54648340

Gene:

Linked Data

• dbSNP Id: rs1030998828
• gnomAD v3: 2-120332138-C-T
• gnomAD v4: 2-120332138-C-T
• MyVariant Identifiers: chr2:g.121089714C>T (hg19) ; chr2:g.120332138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332138C>T , CM000664.2:g.120332138C>T	GRCh38
NC_000002.11:g.121089714C>T , CM000664.1:g.121089714C>T	GRCh37
NC_000002.10:g.120806184C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3332C>T	XP_011510609.1:n.141+3332C>T