Canonical Allele Identifier: CA10654631

Gene:

Linked Data

• ClinVar Variation Id: 369350
• ClinVar RCV Id: RCV000280792
• dbSNP Id: rs33957402
• gnomAD v2: 2-88856247-G-C
• gnomAD v3: 2-88556729-G-C
• gnomAD v4: 2-88556729-G-C
• MyVariant Identifiers: chr2:g.88856247G>C (hg19) ; chr2:g.88556729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88556729G>C , CM000664.2:g.88556729G>C	GRCh38
NC_000002.11:g.88856247G>C , CM000664.1:g.88856247G>C	GRCh37
NC_000002.10:g.88637362G>C	NCBI36
NG_016424.1:g.75848C>G

Transcript Alleles

HGVS	Amino-acid Change
NR_110236.1:n.650+16550G>C