Canonical Allele Identifier: CA5913055

Gene: SPTY2D1

Identifiers and link-outs to other resources

• dbSNP Id: rs10128711
• ExAC: 11:18632984 T / C
• gnomAD: 11:18632984 T / C
• MyVariant Identifiers: chr11:g.18632984T>C (hg19) ; chr11:g.18611437T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18611437T>C , CM000673.2:g.18611437T>C	GRCh38
NC_000011.9:g.18632984T>C , CM000673.1:g.18632984T>C	GRCh37
NC_000011.8:g.18589560T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NM_194285.2:c.1964+40A>G VV	NP_919261.2:p.=
XM_011519919.1:c.1712+40A>G	XP_011518221.1:p.=
XM_011519919.2:c.1712+40A>G	XP_011518221.1:p.=
NM_194285.3:c.1964+40A>G VV MANE Preferred	NP_919261.2:p.=
ENST00000336349.5:c.1964+40A>G	ENSP00000337991.5:p.=