Canonical Allele Identifier: CA46769476

Gene:

Linked Data

• dbSNP Id: rs922733061
• gnomAD v2: 2-41761715-T-C
• gnomAD v3: 2-41534575-T-C
• gnomAD v4: 2-41534575-T-C
• MyVariant Identifiers: chr2:g.41761715T>C (hg19) ; chr2:g.41534575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534575T>C , CM000664.2:g.41534575T>C	GRCh38
NC_000002.11:g.41761715T>C , CM000664.1:g.41761715T>C	GRCh37
NC_000002.10:g.41615219T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3151A>G
XR_939997.1:n.146+3151A>G
XR_939997.2:n.9529+3151A>G