Canonical Allele Identifier: CA4710687

Gene: ERLIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37744656C>T , CM000670.2:g.37744656C>T	GRCh38
NC_000008.10:g.37602174C>T , CM000670.1:g.37602174C>T	GRCh37
NC_000008.9:g.37721332C>T	NCBI36
NG_032059.1:g.13078C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007175.8:c.384C>T MANE Select	NP_009106.1:p.Cys128=
ENST00000519638.3:c.384C>T MANE Select	ENSP00000428112.1:p.Cys128=
NM_001003790.3:c.384C>T	NP_001003790.1:p.Cys128=
NM_001003790.4:c.384C>T	NP_001003790.1:p.Cys128=
NM_001003791.2:c.384C>T	NP_001003791.1:p.Cys128=
NM_001003791.3:c.384C>T	NP_001003791.1:p.Cys128=
NM_001362878.1:c.384C>T	NP_001349807.1:p.Cys128=
NM_001362878.2:c.384C>T	NP_001349807.1:p.Cys128=
NM_001362880.1:c.384C>T	NP_001349809.1:p.Cys128=
NM_001362880.2:c.384C>T	NP_001349809.1:p.Cys128=
NM_007175.6:c.384C>T	NP_009106.1:p.Cys128=
NM_007175.7:c.384C>T	NP_009106.1:p.Cys128=
ENST00000276461.9:c.384C>T	ENSP00000276461.5:p.Cys128=
ENST00000335171.10:c.384C>T	ENSP00000335220.6:p.Cys128=
ENST00000397228.6:c.384C>T	ENSP00000380405.2:p.Cys128=
ENST00000518526.5:c.255C>T	ENSP00000429229.1:p.Cys85=
ENST00000518586.5:c.384C>T	ENSP00000427847.1:p.Cys128=
ENST00000519638.1:c.384C>T	ENSP00000428112.1:p.Cys128=
ENST00000521644.5:c.384C>T	ENSP00000429621.1:p.Cys128=
ENST00000521993.2:n.277C>T
ENST00000521993.3:n.313C>T
ENST00000523107.5:c.384C>T	ENSP00000473292.1:p.Cys128=
ENST00000523887.5:c.384C>T	ENSP00000429903.1:p.Cys128=
ENST00000648919.1:c.384C>T	ENSP00000497100.1:p.Cys128=
XM_005273392.1:c.384C>T	XP_005273449.1:p.Cys128=
XM_005273392.3:c.384C>T	XP_005273449.1:p.Cys128=
XM_006716280.1:c.138C>T	XP_006716343.1:p.Cys46=
XM_006716280.2:c.138C>T	XP_006716343.1:p.Cys46=
XM_017013000.1:c.384C>T	XP_016868489.1:p.Cys128=
XM_024447058.1:c.384C>T	XP_024302826.1:p.Cys128=