Canonical Allele Identifier: CA379514002
Gene: SPTY2D1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1955A>C MANE Select ENSP00000337991.5:p.Glu652Ala
ENST00000336349.5:c.1955A>C ENSP00000337991.5:p.Glu652Ala
NM_194285.2:c.1955A>C NP_919261.2:p.Glu652Ala
XM_011519919.1:c.1703A>C XP_011518221.1:p.Glu568Ala
XM_011519919.2:c.1703A>C XP_011518221.1:p.Glu568Ala
NM_194285.3:c.1955A>C MANE Select NP_919261.2:p.Glu652Ala
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