Canonical Allele Identifier: CA894242714

Gene:

Linked Data

• dbSNP Id: rs1328939959
• gnomAD v3: 2-88016420-C-CTT
• gnomAD v4: 2-88016420-C-CTT
• MyVariant Identifiers: chr2:g.88315939_88315940insTT (hg19) ; chr2:g.88016420_88016421insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016421_88016422dup , CM000664.2:g.88016421_88016422dup	GRCh38
NC_000002.11:g.88315940_88315941dup , CM000664.1:g.88315940_88315941dup	GRCh37
NC_000002.10:g.88097055_88097056dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.766_767dup
XR_940336.3:n.766_767dup