Canonical Allele Identifier: CA47693398
Gene:

Linked Data

dbSNP Id: rs796355014
gnomAD v2: 2-52949689-CTG-C
gnomAD v3: 2-52722551-CTG-C
gnomAD v4: 2-52722551-CTG-C
MyVariant Identifiers: chr2:g.52949690_52949691del (hg19) chr2:g.52722552_52722553del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722555_52722556del , CM000664.2:g.52722555_52722556del GRCh38
NC_000002.11:g.52949693_52949694del , CM000664.1:g.52949693_52949694del GRCh37
NC_000002.10:g.52803197_52803198del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.704_705del
Search 100 bp 5'
Search 100 bp 3'