Canonical Allele Identifier: CA6110443

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 305378
• ClinVar RCV Id: RCV000658599 ; RCV001080329 ; RCV002379175
• dbSNP Id: rs141868759
• ExAC: 11:65635525 C / T
• gnomAD v2: 11-65635525-C-T
• gnomAD v3: 11-65868054-C-T
• gnomAD v4: 11-65868054-C-T
• COSMIC: COSM930528
• MyVariant Identifiers: chr11:g.65635525C>T (hg19) ; chr11:g.65868054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868054C>T , CM000673.2:g.65868054C>T	GRCh38
NC_000011.9:g.65635525C>T , CM000673.1:g.65635525C>T	GRCh37
NC_000011.8:g.65392101C>T	NCBI36
NG_012304.2:g.9881G>A
NG_053116.1:g.12993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.977G>A MANE Select	ENSP00000309953.6:p.Arg326His
ENST00000307998.10:c.977G>A	ENSP00000309953.6:p.Arg326His
ENST00000525392.1:n.138G>A
ENST00000526628.5:n.1543G>A
ENST00000528176.5:c.977G>A	ENSP00000434151.1:p.Arg326His
ENST00000528409.1:n.210G>A
ENST00000530806.5:c.-24-41G>A	ENSP00000436526.1:n.-24-41G>A
ENST00000531005.5:n.1971G>A
ENST00000531645.5:c.125G>A	ENSP00000436521.1:p.Arg42His
ENST00000531972.5:c.977G>A	ENSP00000435295.1:p.Arg326His
ENST00000532084.5:n.403G>A
NM_016938.4:c.977G>A	NP_058634.4:p.Arg326His
NR_037718.1:n.1236G>A
NM_016938.5:c.977G>A MANE Select	NP_058634.4:p.Arg326His
NR_037718.2:n.1102G>A