Canonical Allele Identifier: CA6110533
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 472830
ClinVar RCV Id: RCV000539989 RCV001697378 RCV003330792 RCV002384231 RCV003952836
dbSNP Id: rs144780990
ExAC: 11:65636090 C / T
gnomAD v2: 11-65636090-C-T
gnomAD v3: 11-65868619-C-T
gnomAD v4: 11-65868619-C-T
MyVariant Identifiers: chr11:g.65636090C>T (hg19) chr11:g.65636090_65636093delinsTTCA (hg19) chr11:g.65868619C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868619C>T , CM000673.2:g.65868619C>T GRCh38
NC_000011.9:g.65636090C>T , CM000673.1:g.65636090C>T GRCh37
NC_000011.8:g.65392666C>T NCBI36
NG_012304.2:g.9316G>A
NG_053116.1:g.13558C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.738G>A MANE Select ENSP00000309953.6:p.Glu246=
ENST00000307998.10:c.738G>A ENSP00000309953.6:p.Glu246=
ENST00000526628.5:n.1304G>A
ENST00000527969.1:n.1423G>A
ENST00000528176.5:c.738G>A ENSP00000434151.1:p.Glu246=
ENST00000531005.5:n.1732G>A
ENST00000531972.5:c.738G>A ENSP00000435295.1:p.Glu246=
ENST00000532084.5:n.164G>A
NM_016938.4:c.738G>A NP_058634.4:p.Glu246=
NR_037718.1:n.997G>A
NM_016938.5:c.738G>A MANE Select NP_058634.4:p.Glu246=
NR_037718.2:n.863G>A
Search 100 bp 5'
Search 100 bp 3'