Canonical Allele Identifier: CA54965484

Gene:

Linked Data

• dbSNP Id: rs914788151
• gnomAD v3: 2-122368994-G-T
• gnomAD v4: 2-122368994-G-T
• MyVariant Identifiers: chr2:g.123126570G>T (hg19) ; chr2:g.122368994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122368994G>T , CM000664.2:g.122368994G>T	GRCh38
NC_000002.11:g.123126570G>T , CM000664.1:g.123126570G>T	GRCh37
NC_000002.10:g.122843040G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23969G>T
XR_001739684.1:n.556-23969G>T