Canonical Allele Identifier: CA535782192

Gene:

Linked Data

• dbSNP Id: rs57680279
• gnomAD v2: 2-123126778-GGATAGATAGATAGATA-G
• gnomAD v3: 2-122369202-GGATAGATAGATAGATA-G
• gnomAD v4: 2-122369202-GGATAGATAGATAGATA-G
• MyVariant Identifiers: chr2:g.123126779_123126794del (hg19) ; chr2:g.122369203_122369218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369231_122369246del , CM000664.2:g.122369231_122369246del	GRCh38
NC_000002.11:g.123126807_123126822del , CM000664.1:g.123126807_123126822del	GRCh37
NC_000002.10:g.122843277_122843292del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23732_556-23717del
XR_001739684.1:n.556-23732_556-23717del