Canonical Allele Identifier: CA530950038

Gene:

Linked Data

• dbSNP Id: rs1230153868
• gnomAD v2: 2-20685399-C-G
• gnomAD v3: 2-20485638-C-G
• gnomAD v4: 2-20485638-C-G
• MyVariant Identifiers: chr2:g.20685399C>G (hg19) ; chr2:g.20485638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485638C>G , CM000664.2:g.20485638C>G	GRCh38
NC_000002.11:g.20685399C>G , CM000664.1:g.20685399C>G	GRCh37
NC_000002.10:g.20548880C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+3100G>C