Canonical Allele Identifier: CA55082086
Gene:

Linked Data

dbSNP Id: rs1005457035
gnomAD v3: 2-122884199-T-C
gnomAD v4: 2-122884199-T-C
MyVariant Identifiers: chr2:g.123641775T>C (hg19) chr2:g.122884199T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122884199T>C , CM000664.2:g.122884199T>C GRCh38
NC_000002.11:g.123641775T>C , CM000664.1:g.123641775T>C GRCh37
NC_000002.10:g.123358245T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-743T>C
XR_001739692.1:n.1451-743T>C
XR_923292.2:n.1358-743T>C
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