Canonical Allele Identifier: CA46769416
Gene:

Linked Data

dbSNP Id: rs143329226
gnomAD v3: 2-41534475-G-A
gnomAD v4: 2-41534475-G-A
MyVariant Identifiers: chr2:g.41761615G>A (hg19) chr2:g.41534475G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534475G>A , CM000664.2:g.41534475G>A GRCh38
NC_000002.11:g.41761615G>A , CM000664.1:g.41761615G>A GRCh37
NC_000002.10:g.41615119G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3251C>T
XR_939997.1:n.146+3251C>T
XR_939997.2:n.9529+3251C>T
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