Canonical Allele Identifier: CA756632599
Gene:

Linked Data

dbSNP Id: rs1331187013
MyVariant Identifiers: chr2:g.128189186C>A (hg19) chr2:g.127431610C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127431610C>A , CM000664.2:g.127431610C>A GRCh38
NC_000002.11:g.128189186C>A , CM000664.1:g.128189186C>A GRCh37
NC_000002.10:g.127905656C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923313.1:n.1331+57G>T
XR_001739705.1:n.3607-3346G>T
XR_923313.2:n.4042+57G>T
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