Canonical Allele Identifier: CA379513996
Gene: SPTY2D1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18633032T>A (hg19) chr11:g.18611485T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611485T>A , CM000673.2:g.18611485T>A GRCh38
NC_000011.9:g.18633032T>A , CM000673.1:g.18633032T>A GRCh37
NC_000011.8:g.18589608T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1956A>T MANE Select ENSP00000337991.5:p.Glu652Asp
ENST00000336349.5:c.1956A>T ENSP00000337991.5:p.Glu652Asp
NM_194285.2:c.1956A>T NP_919261.2:p.Glu652Asp
XM_011519919.1:c.1704A>T XP_011518221.1:p.Glu568Asp
XM_011519919.2:c.1704A>T XP_011518221.1:p.Glu568Asp
NM_194285.3:c.1956A>T MANE Select NP_919261.2:p.Glu652Asp
Search 100 bp 5'
Search 100 bp 3'