Canonical Allele Identifier: CA535731945
Gene:

Linked Data

dbSNP Id: rs1327337568
gnomAD v2: 2-121309434-C-G
gnomAD v3: 2-120551858-C-G
gnomAD v4: 2-120551858-C-G
MyVariant Identifiers: chr2:g.121309434C>G (hg19) chr2:g.120551858C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120551858C>G , CM000664.2:g.120551858C>G GRCh38
NC_000002.11:g.121309434C>G , CM000664.1:g.121309434C>G GRCh37
NC_000002.10:g.121025904C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923262.1:n.1487+30G>C
XR_001739680.2:n.1495+30G>C
XR_001739681.2:n.2128+30G>C
XR_001739682.1:n.1495+30G>C
XR_002959417.1:n.1495+30G>C
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