Canonical Allele Identifier: CA540177192

Gene:

Linked Data

• dbSNP Id: rs918825636
• gnomAD v2: 2-227020734-C-T
• gnomAD v3: 2-226156018-C-T
• gnomAD v4: 2-226156018-C-T
• MyVariant Identifiers: chr2:g.227020734C>T (hg19) ; chr2:g.226156018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.226156018C>T , CM000664.2:g.226156018C>T	GRCh38
NC_000002.11:g.227020734C>T , CM000664.1:g.227020734C>T	GRCh37
NC_000002.10:g.226728978C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_046102.1:n.293-8370C>T