Canonical Allele Identifier: CA535782190

Gene:

Linked Data

• dbSNP Id: rs1484026887
• gnomAD v2: 2-123126774-AGATG-A
• gnomAD v3: 2-122369198-AGATG-A
• gnomAD v4: 2-122369198-AGATG-A
• MyVariant Identifiers: chr2:g.123126775_123126778del (hg19) ; chr2:g.122369199_122369202del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369202_122369205del , CM000664.2:g.122369202_122369205del	GRCh38
NC_000002.11:g.123126778_123126781del , CM000664.1:g.123126778_123126781del	GRCh37
NC_000002.10:g.122843248_122843251del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23761_556-23758del
XR_001739684.1:n.556-23761_556-23758del