Canonical Allele Identifier: CA46769401
Gene:

Linked Data

dbSNP Id: rs1040286752
gnomAD v3: 2-41534462-C-T
gnomAD v4: 2-41534462-C-T
MyVariant Identifiers: chr2:g.41761602C>T (hg19) chr2:g.41534462C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534462C>T , CM000664.2:g.41534462C>T GRCh38
NC_000002.11:g.41761602C>T , CM000664.1:g.41761602C>T GRCh37
NC_000002.10:g.41615106C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3264G>A
XR_939997.1:n.146+3264G>A
XR_939997.2:n.9529+3264G>A
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