Canonical Allele Identifier: CA54965496

Gene:

Linked Data

• dbSNP Id: rs567863600
• gnomAD v3: 2-122369139-C-T
• gnomAD v4: 2-122369139-C-T
• MyVariant Identifiers: chr2:g.123126715C>T (hg19) ; chr2:g.122369139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369139C>T , CM000664.2:g.122369139C>T	GRCh38
NC_000002.11:g.123126715C>T , CM000664.1:g.123126715C>T	GRCh37
NC_000002.10:g.122843185C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23824C>T
XR_001739684.1:n.556-23824C>T