Canonical Allele Identifier: CA379514000
Gene: SPTY2D1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18633033T>A (hg19) chr11:g.18611486T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611486T>A , CM000673.2:g.18611486T>A GRCh38
NC_000011.9:g.18633033T>A , CM000673.1:g.18633033T>A GRCh37
NC_000011.8:g.18589609T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1955A>T MANE Select ENSP00000337991.5:p.Glu652Val
ENST00000336349.5:c.1955A>T ENSP00000337991.5:p.Glu652Val
NM_194285.2:c.1955A>T NP_919261.2:p.Glu652Val
XM_011519919.1:c.1703A>T XP_011518221.1:p.Glu568Val
XM_011519919.2:c.1703A>T XP_011518221.1:p.Glu568Val
NM_194285.3:c.1955A>T MANE Select NP_919261.2:p.Glu652Val
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