Canonical Allele Identifier: CA530432489

Gene:

Linked Data

• dbSNP Id: rs1254969755
• gnomAD v2: 2-773387-G-C
• gnomAD v3: 2-773387-G-C
• gnomAD v4: 2-773387-G-C
• MyVariant Identifiers: chr2:g.773387G>C (hg19) ; chr2:g.773387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.773387G>C , CM000664.2:g.773387G>C	GRCh38
NC_000002.11:g.773387G>C , CM000664.1:g.773387G>C	GRCh37
NC_000002.10:g.763387G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011510439.1:c.-24-3449G>C	XP_011508741.1:n.-24-3449G>C
XM_011510440.1:c.-24-3449G>C	XP_011508742.1:n.-24-3449G>C
XM_011510441.1:c.-24-3449G>C	XP_011508743.1:n.-24-3449G>C
XM_011510442.1:c.-24-3449G>C	XP_011508744.1:n.-24-3449G>C
XM_011510443.1:c.-24-3449G>C	XP_011508745.1:n.-24-3449G>C
XR_922708.1:n.4001-3449G>C