Canonical Allele Identifier: CA535782173

Gene:

Linked Data

• dbSNP Id: rs1384342880
• gnomAD v2: 2-123126596-C-T
• gnomAD v3: 2-122369020-C-T
• gnomAD v4: 2-122369020-C-T
• MyVariant Identifiers: chr2:g.123126596C>T (hg19) ; chr2:g.122369020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369020C>T , CM000664.2:g.122369020C>T	GRCh38
NC_000002.11:g.123126596C>T , CM000664.1:g.123126596C>T	GRCh37
NC_000002.10:g.122843066C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23943C>T
XR_001739684.1:n.556-23943C>T