Canonical Allele Identifier: CA4711005

Gene: ERLIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37753529G>A , CM000670.2:g.37753529G>A	GRCh38
NC_000008.10:g.37611047G>A , CM000670.1:g.37611047G>A	GRCh37
NC_000008.9:g.37730205G>A	NCBI36
NG_032059.1:g.21951G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007175.8:c.819G>A MANE Select	NP_009106.1:p.Lys273=
ENST00000519638.3:c.819G>A MANE Select	ENSP00000428112.1:p.Lys273=
NM_001362878.1:c.819G>A	NP_001349807.1:p.Lys273=
NM_001362878.2:c.819G>A	NP_001349807.1:p.Lys273=
NM_007175.6:c.819G>A	NP_009106.1:p.Lys273=
NM_007175.7:c.819G>A	NP_009106.1:p.Lys273=
ENST00000276461.9:c.819G>A	ENSP00000276461.5:p.Lys273=
ENST00000519638.1:c.819G>A	ENSP00000428112.1:p.Lys273=
ENST00000521644.5:c.819G>A	ENSP00000429621.1:p.Lys273=
XM_005273392.1:c.819G>A	XP_005273449.1:p.Lys273=
XM_005273392.3:c.819G>A	XP_005273449.1:p.Lys273=
XM_006716280.1:c.573G>A	XP_006716343.1:p.Lys191=
XM_006716280.2:c.573G>A	XP_006716343.1:p.Lys191=
XM_024447058.1:c.819G>A	XP_024302826.1:p.Lys273=