Canonical Allele Identifier: CA11052296

Gene:

Linked Data

• dbSNP Id: rs10207060
• gnomAD v2: 2-240687289-T-G
• gnomAD v3: 2-239765595-T-G
• gnomAD v4: 2-239765595-T-G
• MyVariant Identifiers: chr2:g.240687289T>G (hg19) ; chr2:g.239765595T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.239765595T>G , CM000664.2:g.239765595T>G	GRCh38
NC_000002.11:g.240687289T>G , CM000664.1:g.240687289T>G	GRCh37
NC_000002.10:g.240352226T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_037808.1:n.73+2663T>G