Canonical Allele Identifier: CA10603924

Gene: ERLIN2

Linked Data

• ClinVar Variation Id: 281600
• ClinVar RCV Id: RCV000285566
• dbSNP Id: rs886042197
• MyVariant Identifiers: chr8:g.37595476C>A (hg19) ; chr8:g.37737958C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37737958C>A , CM000670.2:g.37737958C>A	GRCh38
NC_000008.10:g.37595476C>A , CM000670.1:g.37595476C>A	GRCh37
NC_000008.9:g.37714634C>A	NCBI36
NG_032059.1:g.6380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519638.3:c.36C>A MANE Select	ENSP00000428112.1:p.Ser12=
ENST00000521993.3:n.36+1280C>A
ENST00000647813.1:n.349C>A
ENST00000648919.1:c.36C>A	ENSP00000497100.1:p.Ser12=
ENST00000276461.9:c.36C>A	ENSP00000276461.5:p.Ser12=
ENST00000335171.10:c.36C>A	ENSP00000335220.6:p.Ser12=
ENST00000397228.6:c.36C>A	ENSP00000380405.2:p.Ser12=
ENST00000518526.5:c.36C>A	ENSP00000429229.1:p.Ser12=
ENST00000518586.5:c.36C>A	ENSP00000427847.1:p.Ser12=
ENST00000519638.1:c.36C>A	ENSP00000428112.1:p.Ser12=
ENST00000519872.1:n.129C>A
ENST00000521644.5:c.36C>A	ENSP00000429621.1:p.Ser12=
ENST00000523107.5:c.36C>A	ENSP00000473292.1:p.Ser12=
ENST00000523887.5:c.36C>A	ENSP00000429903.1:p.Ser12=
NM_001003790.3:c.36C>A	NP_001003790.1:p.Ser12=
NM_001003791.2:c.36C>A	NP_001003791.1:p.Ser12=
NM_007175.6:c.36C>A	NP_009106.1:p.Ser12=
XM_005273392.1:c.36C>A	XP_005273449.1:p.Ser12=
XM_006716280.1:c.-164C>A	XP_006716343.1:n.-164C>A
NM_001362878.1:c.36C>A	NP_001349807.1:p.Ser12=
NM_001362880.1:c.36C>A	NP_001349809.1:p.Ser12=
NM_007175.7:c.36C>A	NP_009106.1:p.Ser12=
XM_005273392.3:c.36C>A	XP_005273449.1:p.Ser12=
XM_006716280.2:c.-164C>A	XP_006716343.1:n.-164C>A
XM_017013000.1:c.36C>A	XP_016868489.1:p.Ser12=
XM_024447058.1:c.36C>A	XP_024302826.1:p.Ser12=
NM_001003790.4:c.36C>A	NP_001003790.1:p.Ser12=
NM_001003791.3:c.36C>A	NP_001003791.1:p.Ser12=
NM_001362878.2:c.36C>A	NP_001349807.1:p.Ser12=
NM_001362880.2:c.36C>A	NP_001349809.1:p.Ser12=
NM_007175.8:c.36C>A MANE Select	NP_009106.1:p.Ser12=