Canonical Allele Identifier: CA46769485
Gene:

Linked Data

dbSNP Id: rs140448517
gnomAD v2: 2-41761727-A-T
gnomAD v3: 2-41534587-A-T
gnomAD v4: 2-41534587-A-T
MyVariant Identifiers: chr2:g.41761727A>T (hg19) chr2:g.41534587A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534587A>T , CM000664.2:g.41534587A>T GRCh38
NC_000002.11:g.41761727A>T , CM000664.1:g.41761727A>T GRCh37
NC_000002.10:g.41615231A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939996.1:n.181+3139T>A
XR_939997.1:n.146+3139T>A
XR_939997.2:n.9529+3139T>A
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