Canonical Allele Identifier: CA43254736

Gene:

Linked Data

• dbSNP Id: rs542524250
• gnomAD v2: 2-16639498-A-AT
• gnomAD v3: 2-16458230-A-AT
• gnomAD v4: 2-16458230-A-AT
• MyVariant Identifiers: chr2:g.16639499_16639500insT (hg19) ; chr2:g.16639498_16639499insT (hg19) ; chr2:g.16458231_16458232insT (hg38) ; chr2:g.16458230_16458231insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458241dup , CM000664.2:g.16458241dup	GRCh38
NC_000002.11:g.16639509dup , CM000664.1:g.16639509dup	GRCh37
NC_000002.10:g.16502990dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939752.1:n.396-3137dup