Canonical Allele Identifier: CA6110469

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 2418267
• ClinVar RCV Id: RCV003118376 ; RCV003162143
• dbSNP Id: rs777080474
• ExAC: 11:65635771 A / G
• gnomAD v2: 11-65635771-A-G
• gnomAD v3: 11-65868300-A-G
• gnomAD v4: 11-65868300-A-G
• MyVariant Identifiers: chr11:g.65635771A>G (hg19) ; chr11:g.65868300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868300A>G , CM000673.2:g.65868300A>G	GRCh38
NC_000011.9:g.65635771A>G , CM000673.1:g.65635771A>G	GRCh37
NC_000011.8:g.65392347A>G	NCBI36
NG_012304.2:g.9635T>C
NG_053116.1:g.13239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.969T>C MANE Select	ENSP00000309953.6:p.Ser323=
ENST00000307998.10:c.969T>C	ENSP00000309953.6:p.Ser323=
ENST00000525392.1:n.130T>C
ENST00000526628.5:n.1535T>C
ENST00000528176.5:c.969T>C	ENSP00000434151.1:p.Ser323=
ENST00000528409.1:n.207+6T>C
ENST00000530806.5:c.-30T>C	ENSP00000436526.1:n.-30T>C
ENST00000531005.5:n.1963T>C
ENST00000531645.5:c.117T>C	ENSP00000436521.1:p.Ser39=
ENST00000531972.5:c.969T>C	ENSP00000435295.1:p.Ser323=
ENST00000532084.5:n.395T>C
NM_016938.4:c.969T>C	NP_058634.4:p.Ser323=
NR_037718.1:n.1228T>C
NM_016938.5:c.969T>C MANE Select	NP_058634.4:p.Ser323=
NR_037718.2:n.1094T>C