Canonical Allele Identifier: CA7996118

Gene: SEZ6L2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29873306C>T , CM000678.2:g.29873306C>T	GRCh38
NC_000016.9:g.29884627C>T , CM000678.1:g.29884627C>T	GRCh37
NC_000016.8:g.29792128C>T	NCBI36
NG_029737.1:g.30959G>A
NG_029737.2:g.30959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617533.5:c.2422G>A MANE Select	ENSP00000481917.1:p.Glu808Lys
ENST00000308713.9:c.2422G>A	ENSP00000312550.5:p.Glu808Lys
ENST00000346932.9:c.2080G>A	ENSP00000319215.6:p.Glu694Lys
ENST00000350527.7:c.2212G>A	ENSP00000310206.3:p.Glu738Lys
ENST00000537485.5:c.2290G>A	ENSP00000439412.1:p.Glu764Lys
ENST00000617533.4:c.2422G>A	ENSP00000481917.1:p.Glu808Lys
NM_001114099.2:c.2212G>A	NP_001107571.1:p.Glu738Lys
NM_001114100.2:c.2080G>A	NP_001107572.1:p.Glu694Lys
NM_001243332.1:c.2422G>A	NP_001230261.1:p.Glu808Lys
NM_001243333.1:c.2290G>A	NP_001230262.1:p.Glu764Lys
NM_012410.3:c.2212G>A	NP_036542.1:p.Glu738Lys
NM_201575.3:c.2422G>A	NP_963869.2:p.Glu808Lys
XM_005255252.1:c.2296+232G>A	XP_005255309.1:n.2296+232G>A
XM_005255252.3:c.2296+232G>A	XP_005255309.1:n.2296+232G>A
XM_017023135.2:c.1870G>A	XP_016878624.1:p.Glu624Lys
XM_024450229.1:c.2080G>A	XP_024305997.1:p.Glu694Lys
NM_001114099.3:c.2212G>A	NP_001107571.1:p.Glu738Lys
NM_001114100.3:c.2080G>A	NP_001107572.1:p.Glu694Lys
NM_012410.4:c.2212G>A	NP_036542.1:p.Glu738Lys
NM_201575.4:c.2422G>A	NP_963869.2:p.Glu808Lys
NM_001243332.2:c.2422G>A MANE Select	NP_001230261.1:p.Glu808Lys
NM_001243333.2:c.2290G>A	NP_001230262.1:p.Glu764Lys
NM_001388363.1:c.2080G>A	NP_001375292.1:p.Glu694Lys
NM_001388364.1:c.2296+232G>A	NP_001375293.1:n.2296+232G>A
NM_001388365.1:c.2221G>A	NP_001375294.1:p.Glu741Lys