Canonical Allele Identifier: CA535782174

Gene:

Linked Data

• dbSNP Id: rs1430080413
• gnomAD v2: 2-123126648-G-C
• gnomAD v3: 2-122369072-G-C
• gnomAD v4: 2-122369072-G-C
• MyVariant Identifiers: chr2:g.123126648G>C (hg19) ; chr2:g.122369072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369072G>C , CM000664.2:g.122369072G>C	GRCh38
NC_000002.11:g.123126648G>C , CM000664.1:g.123126648G>C	GRCh37
NC_000002.10:g.122843118G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23891G>C
XR_001739684.1:n.556-23891G>C