Canonical Allele Identifier: CA2533590492
Gene: SPTY2D1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611463A>T , CM000673.2:g.18611463A>T GRCh38
NC_000011.9:g.18633010A>T , CM000673.1:g.18633010A>T GRCh37
NC_000011.8:g.18589586A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1964+14T>A MANE Select ENSP00000337991.5:n.1964+14T>A
ENST00000336349.5:c.1964+14T>A ENSP00000337991.5:n.1964+14T>A
NM_194285.2:c.1964+14T>A NP_919261.2:n.1964+14T>A
XM_011519919.1:c.1712+14T>A XP_011518221.1:n.1712+14T>A
XM_011519919.2:c.1712+14T>A XP_011518221.1:n.1712+14T>A
NM_194285.3:c.1964+14T>A MANE Select NP_919261.2:n.1964+14T>A
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