Canonical Allele Identifier: CA535731947
Gene:

Linked Data

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

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

Transcript Alleles

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