Canonical Allele Identifier: CA180410

Gene: SAG

Linked Data

• ClinVar Variation Id: 167633
• ClinVar RCV Id: RCV000153881 ; RCV000299646 ; RCV000394806 ; RCV000425708
• dbSNP Id: rs141521563
• ExAC: 2:234229395 G / A
• gnomAD v2: 2-234229395-G-A
• gnomAD v3: 2-233320749-G-A
• gnomAD v4: 2-233320749-G-A
• MyVariant Identifiers: chr2:g.234229395G>A (hg19) ; chr2:g.233320749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233320749G>A , CM000664.2:g.233320749G>A	GRCh38
NC_000002.11:g.234229395G>A , CM000664.1:g.234229395G>A	GRCh37
NC_000002.10:g.233894134G>A	NCBI36
NG_009116.1:g.18087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.301G>A MANE Select	ENSP00000386444.1:p.Ala101Thr
ENST00000409110.5:c.301G>A	ENSP00000386444.1:p.Ala101Thr
ENST00000412969.6:n.315+1954G>A
ENST00000447536.5:c.301G>A	ENSP00000408937.1:p.Ala101Thr
ENST00000453143.5:c.*132G>A	ENSP00000404733.1:n.*132G>A
ENST00000462487.5:n.370G>A
ENST00000471884.5:n.472G>A
ENST00000474206.1:n.138G>A
ENST00000476500.5:n.416+1954G>A
ENST00000479450.1:n.140-2197G>A
NM_000541.4:c.301G>A	NP_000532.2:p.Ala101Thr
XM_011511589.1:c.301G>A	XP_011509891.1:p.Ala101Thr
XM_011511590.1:c.301G>A	XP_011509892.1:p.Ala101Thr
XM_011511591.1:c.301G>A	XP_011509893.1:p.Ala101Thr
XM_011511592.1:c.145G>A	XP_011509894.1:p.Ala49Thr
XM_011511593.1:c.75+726G>A	XP_011509895.1:n.75+726G>A
XM_011511595.1:c.301G>A	XP_011509897.1:p.Ala101Thr
XM_011511596.1:c.-102G>A	XP_011509898.1:n.-102G>A
XM_011511597.1:c.-28+1954G>A	XP_011509899.1:n.-28+1954G>A
XR_922978.1:n.497G>A
XR_922979.1:n.497G>A
XR_922980.1:n.596G>A
XM_011511593.3:c.75+726G>A	XP_011509895.1:n.75+726G>A
XM_017004641.1:c.301G>A	XP_016860130.1:p.Ala101Thr
XM_017004642.1:c.301G>A	XP_016860131.1:p.Ala101Thr
XM_017004643.1:c.301G>A	XP_016860132.1:p.Ala101Thr
XM_024453036.1:c.-102G>A	XP_024308804.1:n.-102G>A
XR_001738882.1:n.378G>A
XR_922980.2:n.596G>A
NM_000541.5:c.301G>A MANE Select	NP_000532.2:p.Ala101Thr