Canonical Allele Identifier: CA54579290

Gene:

Linked Data

• dbSNP Id: rs555878243
• gnomAD v2: 2-118837273-C-T
• gnomAD v3: 2-118079697-C-T
• gnomAD v4: 2-118079697-C-T
• MyVariant Identifiers: chr2:g.118837273C>T (hg19) ; chr2:g.118079697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079697C>T , CM000664.2:g.118079697C>T	GRCh38
NC_000002.11:g.118837273C>T , CM000664.1:g.118837273C>T	GRCh37
NC_000002.10:g.118553743C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2165G>A	XP_011510607.1:n.697-2165G>A
XR_001739662.2:n.138+8554G>A