Canonical Allele Identifier: CA6110514

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1592565
• ClinVar RCV Id: RCV002111766
• dbSNP Id: rs759195625
• ExAC: 11:65635961 C / T
• gnomAD v2: 11-65635961-C-T
• gnomAD v4: 11-65868490-C-T
• MyVariant Identifiers: chr11:g.65635961C>T (hg19) ; chr11:g.65868490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868490C>T , CM000673.2:g.65868490C>T	GRCh38
NC_000011.9:g.65635961C>T , CM000673.1:g.65635961C>T	GRCh37
NC_000011.8:g.65392537C>T	NCBI36
NG_012304.2:g.9445G>A
NG_053116.1:g.13429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+20G>A MANE Select	ENSP00000309953.6:n.847+20G>A
ENST00000307998.10:c.847+20G>A	ENSP00000309953.6:n.847+20G>A
ENST00000526628.5:n.1413+20G>A
ENST00000527969.1:n.1552G>A
ENST00000528176.5:c.847+20G>A	ENSP00000434151.1:n.847+20G>A
ENST00000528409.1:n.23G>A
ENST00000530806.5:c.-152+20G>A	ENSP00000436526.1:n.-152+20G>A
ENST00000531005.5:n.1841+20G>A
ENST00000531972.5:c.847+20G>A	ENSP00000435295.1:n.847+20G>A
ENST00000532084.5:n.273+20G>A
NM_016938.4:c.847+20G>A	NP_058634.4:n.847+20G>A
NR_037718.1:n.1106+20G>A
NM_016938.5:c.847+20G>A MANE Select	NP_058634.4:n.847+20G>A
NR_037718.2:n.972+20G>A