Canonical Allele Identifier: CA16111299

Gene:

Linked Data

• dbSNP Id: rs35860453
• gnomAD v2: 2-127866047-C-T
• gnomAD v3: 2-127108471-C-T
• gnomAD v4: 2-127108471-C-T
• MyVariant Identifiers: chr2:g.127866047C>T (hg19) ; chr2:g.127108471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127108471C>T , CM000664.2:g.127108471C>T	GRCh38
NC_000002.11:g.127866047C>T , CM000664.1:g.127866047C>T	GRCh37
NC_000002.10:g.127582517C>T	NCBI36
NG_012042.1:g.3818G>A

Transcript Alleles

HGVS	Amino-acid change
XR_923311.1:n.317+656C>T
XR_923311.3:n.422+656C>T