Canonical Allele Identifier: CA67154106

Gene:

Linked Data

• dbSNP Id: rs568328751
• gnomAD v3: 2-226155856-C-T
• gnomAD v4: 2-226155856-C-T
• MyVariant Identifiers: chr2:g.227020572C>T (hg19) ; chr2:g.226155856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.226155856C>T , CM000664.2:g.226155856C>T	GRCh38
NC_000002.11:g.227020572C>T , CM000664.1:g.227020572C>T	GRCh37
NC_000002.10:g.226728816C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_046102.1:n.293-8532C>T