Canonical Allele Identifier: CA370651795

Gene: ERLIN2

Linked Data

• MyVariant Identifiers: chr8:g.37601887T>C (hg19) ; chr8:g.37744369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37744369T>C , CM000670.2:g.37744369T>C	GRCh38
NC_000008.10:g.37601887T>C , CM000670.1:g.37601887T>C	GRCh37
NC_000008.9:g.37721045T>C	NCBI36
NG_032059.1:g.12791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519638.3:c.251T>C MANE Select	ENSP00000428112.1:p.Ile84Thr
ENST00000521993.3:n.180T>C
ENST00000647813.1:n.517T>C
ENST00000648919.1:c.251T>C	ENSP00000497100.1:p.Ile84Thr
ENST00000276461.9:c.251T>C	ENSP00000276461.5:p.Ile84Thr
ENST00000335171.10:c.251T>C	ENSP00000335220.6:p.Ile84Thr
ENST00000397228.6:c.251T>C	ENSP00000380405.2:p.Ile84Thr
ENST00000518526.5:c.122T>C	ENSP00000429229.1:p.Ile41Thr
ENST00000518586.5:c.251T>C	ENSP00000427847.1:p.Ile84Thr
ENST00000519638.1:c.251T>C	ENSP00000428112.1:p.Ile84Thr
ENST00000521644.5:c.251T>C	ENSP00000429621.1:p.Ile84Thr
ENST00000521993.2:n.144T>C
ENST00000523107.5:c.251T>C	ENSP00000473292.1:p.Ile84Thr
ENST00000523887.5:c.251T>C	ENSP00000429903.1:p.Ile84Thr
NM_001003790.3:c.251T>C	NP_001003790.1:p.Ile84Thr
NM_001003791.2:c.251T>C	NP_001003791.1:p.Ile84Thr
NM_007175.6:c.251T>C	NP_009106.1:p.Ile84Thr
XM_005273392.1:c.251T>C	XP_005273449.1:p.Ile84Thr
XM_006716280.1:c.5T>C	XP_006716343.1:p.Ile2Thr
NM_001362878.1:c.251T>C	NP_001349807.1:p.Ile84Thr
NM_001362880.1:c.251T>C	NP_001349809.1:p.Ile84Thr
NM_007175.7:c.251T>C	NP_009106.1:p.Ile84Thr
XM_005273392.3:c.251T>C	XP_005273449.1:p.Ile84Thr
XM_006716280.2:c.5T>C	XP_006716343.1:p.Ile2Thr
XM_017013000.1:c.251T>C	XP_016868489.1:p.Ile84Thr
XM_024447058.1:c.251T>C	XP_024302826.1:p.Ile84Thr
NM_001003790.4:c.251T>C	NP_001003790.1:p.Ile84Thr
NM_001003791.3:c.251T>C	NP_001003791.1:p.Ile84Thr
NM_001362878.2:c.251T>C	NP_001349807.1:p.Ile84Thr
NM_001362880.2:c.251T>C	NP_001349809.1:p.Ile84Thr
NM_007175.8:c.251T>C MANE Select	NP_009106.1:p.Ile84Thr