Canonical Allele Identifier: CA535784166
Gene:

Linked Data

dbSNP Id: rs1333642711
gnomAD v2: 2-123136771-G-A
MyVariant Identifiers: chr2:g.123136771G>A (hg19) chr2:g.122379195G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122379195G>A , CM000664.2:g.122379195G>A GRCh38
NC_000002.11:g.123136771G>A , CM000664.1:g.123136771G>A GRCh37
NC_000002.10:g.122853241G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923278.1:n.556-13768G>A
XR_001739684.1:n.556-13768G>A
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