Canonical Allele Identifier: CA55082017
Gene:

Linked Data

dbSNP Id: rs751909724
gnomAD v2: 2-123641479-C-T
gnomAD v3: 2-122883903-C-T
gnomAD v4: 2-122883903-C-T
MyVariant Identifiers: chr2:g.123641479C>T (hg19) chr2:g.122883903C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122883903C>T , CM000664.2:g.122883903C>T GRCh38
NC_000002.11:g.123641479C>T , CM000664.1:g.123641479C>T GRCh37
NC_000002.10:g.123357949C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-1039C>T
XR_001739692.1:n.1451-1039C>T
XR_923292.2:n.1358-1039C>T
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