Canonical Allele Identifier: CA46769469

Gene:

Linked Data

• dbSNP Id: rs1003762152
• gnomAD v3: 2-41534555-G-C
• gnomAD v4: 2-41534555-G-C
• MyVariant Identifiers: chr2:g.41761695G>C (hg19) ; chr2:g.41534555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534555G>C , CM000664.2:g.41534555G>C	GRCh38
NC_000002.11:g.41761695G>C , CM000664.1:g.41761695G>C	GRCh37
NC_000002.10:g.41615199G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939996.1:n.181+3171C>G
XR_939997.1:n.146+3171C>G
XR_939997.2:n.9529+3171C>G