Canonical Allele Identifier: CA43895673

Gene:

Linked Data

• dbSNP Id: rs1001257712
• gnomAD v3: 2-20485741-T-G
• gnomAD v4: 2-20485741-T-G
• MyVariant Identifiers: chr2:g.20685502T>G (hg19) ; chr2:g.20485741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485741T>G , CM000664.2:g.20485741T>G	GRCh38
NC_000002.11:g.20685502T>G , CM000664.1:g.20685502T>G	GRCh37
NC_000002.10:g.20548983T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+2997A>C