Canonical Allele Identifier: CA894254500

Gene:

Linked Data

• dbSNP Id: rs1394818850
• gnomAD v3: 2-88016276-T-TTAGCCA
• gnomAD v4: 2-88016276-T-TTAGCCA
• MyVariant Identifiers: chr2:g.88315795_88315796insTAGCCA (hg19) ; chr2:g.88016276_88016277insTAGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016279_88016284dup , CM000664.2:g.88016279_88016284dup	GRCh38
NC_000002.11:g.88315798_88315803dup , CM000664.1:g.88315798_88315803dup	GRCh37
NC_000002.10:g.88096913_88096918dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.624_629dup
XR_940336.3:n.624_629dup