Canonical Allele Identifier: CA535800183
Gene:

Linked Data

dbSNP Id: rs1441104862
gnomAD v2: 2-123641579-C-T
gnomAD v3: 2-122884003-C-T
gnomAD v4: 2-122884003-C-T
MyVariant Identifiers: chr2:g.123641579C>T (hg19) chr2:g.122884003C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122884003C>T , CM000664.2:g.122884003C>T GRCh38
NC_000002.11:g.123641579C>T , CM000664.1:g.123641579C>T GRCh37
NC_000002.10:g.123358049C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-939C>T
XR_001739692.1:n.1451-939C>T
XR_923292.2:n.1358-939C>T
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