Canonical Allele Identifier: CA535782214
Gene:

Linked Data

dbSNP Id: rs1176219521
gnomAD v2: 2-123126946-C-CA
gnomAD v3: 2-122369370-C-CA
gnomAD v4: 2-122369370-C-CA
MyVariant Identifiers: chr2:g.123126946_123126947insA (hg19) chr2:g.122369370_122369371insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122369371dup , CM000664.2:g.122369371dup GRCh38
NC_000002.11:g.123126947dup , CM000664.1:g.123126947dup GRCh37
NC_000002.10:g.122843417dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923278.1:n.556-23592dup
XR_001739684.1:n.556-23592dup
Search 100 bp 5'
Search 100 bp 3'