Canonical Allele Identifier: CA370658032

Gene: ERLIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37749564A>G , CM000670.2:g.37749564A>G	GRCh38
NC_000008.10:g.37607082A>G , CM000670.1:g.37607082A>G	GRCh37
NC_000008.9:g.37726240A>G	NCBI36
NG_032059.1:g.17986A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007175.8:c.430A>G MANE Select	NP_009106.1:p.Ile144Val
ENST00000519638.3:c.430A>G MANE Select	ENSP00000428112.1:p.Ile144Val
NM_001362878.1:c.430A>G	NP_001349807.1:p.Ile144Val
NM_001362878.2:c.430A>G	NP_001349807.1:p.Ile144Val
NM_007175.6:c.430A>G	NP_009106.1:p.Ile144Val
NM_007175.7:c.430A>G	NP_009106.1:p.Ile144Val
ENST00000276461.9:c.430A>G	ENSP00000276461.5:p.Ile144Val
ENST00000518526.5:c.301A>G	ENSP00000429229.1:p.Ile101Val
ENST00000519638.1:c.430A>G	ENSP00000428112.1:p.Ile144Val
ENST00000521644.5:c.430A>G	ENSP00000429621.1:p.Ile144Val
ENST00000521993.2:n.323A>G
ENST00000521993.3:n.359A>G
XM_005273392.1:c.430A>G	XP_005273449.1:p.Ile144Val
XM_005273392.3:c.430A>G	XP_005273449.1:p.Ile144Val
XM_006716280.1:c.184A>G	XP_006716343.1:p.Ile62Val
XM_006716280.2:c.184A>G	XP_006716343.1:p.Ile62Val
XM_024447058.1:c.430A>G	XP_024302826.1:p.Ile144Val