Canonical Allele Identifier: CA535731943
Gene:

Linked Data

dbSNP Id: rs1371639868
gnomAD v2: 2-121309390-A-G
gnomAD v3: 2-120551814-A-G
gnomAD v4: 2-120551814-A-G
MyVariant Identifiers: chr2:g.121309390A>G (hg19) chr2:g.120551814A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120551814A>G , CM000664.2:g.120551814A>G GRCh38
NC_000002.11:g.121309390A>G , CM000664.1:g.121309390A>G GRCh37
NC_000002.10:g.121025860A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923262.1:n.1487+74T>C
XR_001739680.2:n.1495+74T>C
XR_001739681.2:n.2128+74T>C
XR_001739682.1:n.1495+74T>C
XR_002959417.1:n.1495+74T>C
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