Canonical Allele Identifier: CA2790624422

Gene: SPTY2D1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18611470T>C , CM000673.2:g.18611470T>C	GRCh38
NC_000011.9:g.18633017T>C , CM000673.1:g.18633017T>C	GRCh37
NC_000011.8:g.18589593T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336349.6:c.1964+7A>G MANE Select	ENSP00000337991.5:n.1964+7A>G
ENST00000336349.5:c.1964+7A>G	ENSP00000337991.5:n.1964+7A>G
NM_194285.2:c.1964+7A>G	NP_919261.2:n.1964+7A>G
XM_011519919.1:c.1712+7A>G	XP_011518221.1:n.1712+7A>G
XM_011519919.2:c.1712+7A>G	XP_011518221.1:n.1712+7A>G
NM_194285.3:c.1964+7A>G MANE Select	NP_919261.2:n.1964+7A>G