Canonical Allele Identifier: CA55082020
Gene:

Linked Data

dbSNP Id: rs554850101
gnomAD v3: 2-122883917-G-A
gnomAD v4: 2-122883917-G-A
MyVariant Identifiers: chr2:g.123641493G>A (hg19) chr2:g.122883917G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122883917G>A , CM000664.2:g.122883917G>A GRCh38
NC_000002.11:g.123641493G>A , CM000664.1:g.123641493G>A GRCh37
NC_000002.10:g.123357963G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-1025G>A
XR_001739692.1:n.1451-1025G>A
XR_923292.2:n.1358-1025G>A
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