Canonical Allele Identifier: CA532206394
Gene:

Linked Data

dbSNP Id: rs1475997075
gnomAD v2: 2-41761600-T-G
MyVariant Identifiers: chr2:g.41761600T>G (hg19) chr2:g.41534460T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534460T>G , CM000664.2:g.41534460T>G GRCh38
NC_000002.11:g.41761600T>G , CM000664.1:g.41761600T>G GRCh37
NC_000002.10:g.41615104T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3266A>C
XR_939997.1:n.146+3266A>C
XR_939997.2:n.9529+3266A>C
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