Canonical Allele Identifier: CA763204762

Gene:

Linked Data

• dbSNP Id: rs1172629029
• gnomAD v3: 2-200033244-G-GC
• gnomAD v4: 2-200033244-G-GC
• MyVariant Identifiers: chr2:g.200897967_200897968insC (hg19) ; chr2:g.200033244_200033245insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033244_200033245insC , CM000664.2:g.200033244_200033245insC	GRCh38
NC_000002.11:g.200897967_200897968insC , CM000664.1:g.200897967_200897968insC	GRCh37
NC_000002.10:g.200606212_200606213insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22349_178-22348insG