Canonical Allele Identifier: CA370650919

Gene: ERLIN2

Linked Data

• MyVariant Identifiers: chr8:g.37599335A>C (hg19) ; chr8:g.37741817A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37741817A>C , CM000670.2:g.37741817A>C	GRCh38
NC_000008.10:g.37599335A>C , CM000670.1:g.37599335A>C	GRCh37
NC_000008.9:g.37718493A>C	NCBI36
NG_032059.1:g.10239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519638.3:c.235A>C MANE Select	ENSP00000428112.1:p.Ser79Arg
ENST00000521993.3:n.164A>C
ENST00000647813.1:n.502+1371A>C
ENST00000648919.1:c.235A>C	ENSP00000497100.1:p.Ser79Arg
ENST00000276461.9:c.235A>C	ENSP00000276461.5:p.Ser79Arg
ENST00000335171.10:c.235A>C	ENSP00000335220.6:p.Ser79Arg
ENST00000397228.6:c.235A>C	ENSP00000380405.2:p.Ser79Arg
ENST00000518526.5:c.108-2538A>C	ENSP00000429229.1:n.108-2538A>C
ENST00000518586.5:c.235A>C	ENSP00000427847.1:p.Ser79Arg
ENST00000519638.1:c.235A>C	ENSP00000428112.1:p.Ser79Arg
ENST00000521644.5:c.235A>C	ENSP00000429621.1:p.Ser79Arg
ENST00000521993.2:n.128A>C
ENST00000523107.5:c.235A>C	ENSP00000473292.1:p.Ser79Arg
ENST00000523887.5:c.235A>C	ENSP00000429903.1:p.Ser79Arg
NM_001003790.3:c.235A>C	NP_001003790.1:p.Ser79Arg
NM_001003791.2:c.235A>C	NP_001003791.1:p.Ser79Arg
NM_007175.6:c.235A>C	NP_009106.1:p.Ser79Arg
XM_005273392.1:c.235A>C	XP_005273449.1:p.Ser79Arg
XM_006716280.1:c.-11+1371A>C	XP_006716343.1:n.-11+1371A>C
NM_001362878.1:c.235A>C	NP_001349807.1:p.Ser79Arg
NM_001362880.1:c.235A>C	NP_001349809.1:p.Ser79Arg
NM_007175.7:c.235A>C	NP_009106.1:p.Ser79Arg
XM_005273392.3:c.235A>C	XP_005273449.1:p.Ser79Arg
XM_006716280.2:c.-11+1371A>C	XP_006716343.1:n.-11+1371A>C
XM_017013000.1:c.235A>C	XP_016868489.1:p.Ser79Arg
XM_024447058.1:c.235A>C	XP_024302826.1:p.Ser79Arg
NM_001003790.4:c.235A>C	NP_001003790.1:p.Ser79Arg
NM_001003791.3:c.235A>C	NP_001003791.1:p.Ser79Arg
NM_001362878.2:c.235A>C	NP_001349807.1:p.Ser79Arg
NM_001362880.2:c.235A>C	NP_001349809.1:p.Ser79Arg
NM_007175.8:c.235A>C MANE Select	NP_009106.1:p.Ser79Arg