Canonical Allele Identifier: CA16605383

Gene: ERLIN2

Linked Data

• ClinVar Variation Id: 383997
• ClinVar RCV Id: RCV000444783
• dbSNP Id: rs1057521811
• MyVariant Identifiers: chr8:g.37594170G>C (hg19) ; chr8:g.37736652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37736652G>C , CM000670.2:g.37736652G>C	GRCh38
NC_000008.10:g.37594170G>C , CM000670.1:g.37594170G>C	GRCh37
NC_000008.9:g.37713328G>C	NCBI36
NG_032059.1:g.5074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519638.3:c.-42G>C MANE Select	ENSP00000428112.1:n.-42G>C
ENST00000521993.3:n.10G>C
ENST00000648919.1:c.-42G>C	ENSP00000497100.1:n.-42G>C
ENST00000276461.9:c.-42G>C	ENSP00000276461.5:n.-42G>C
ENST00000397228.6:c.-42G>C	ENSP00000380405.2:n.-42G>C
ENST00000518526.5:c.-42G>C	ENSP00000429229.1:n.-42G>C
ENST00000519872.1:n.52G>C
ENST00000523887.5:c.-42G>C	ENSP00000429903.1:n.-42G>C
NM_001003791.2:c.-42G>C	NP_001003791.1:n.-42G>C
NM_007175.6:c.-42G>C	NP_009106.1:n.-42G>C
NR_125821.1:n.195C>G
XM_006716280.1:c.-241G>C	XP_006716343.1:n.-241G>C
NM_007175.7:c.-42G>C	NP_009106.1:n.-42G>C
XM_006716280.2:c.-241G>C	XP_006716343.1:n.-241G>C
NM_001003790.4:c.-371G>C	NP_001003790.1:n.-371G>C
NM_001003791.3:c.-42G>C	NP_001003791.1:n.-42G>C
NM_001362878.2:c.-371G>C	NP_001349807.1:n.-371G>C
NM_001362880.2:c.-792G>C	NP_001349809.1:n.-792G>C
NM_007175.8:c.-42G>C MANE Select	NP_009106.1:n.-42G>C