Canonical Allele Identifier: CA46769552
Gene:

Linked Data

dbSNP Id: rs1049765226
gnomAD v3: 2-41534634-T-A
gnomAD v4: 2-41534634-T-A
MyVariant Identifiers: chr2:g.41761774T>A (hg19) chr2:g.41534634T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534634T>A , CM000664.2:g.41534634T>A GRCh38
NC_000002.11:g.41761774T>A , CM000664.1:g.41761774T>A GRCh37
NC_000002.10:g.41615278T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3092A>T
XR_939997.1:n.146+3092A>T
XR_939997.2:n.9529+3092A>T
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