Canonical Allele Identifier: CA381357717

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868619-C-A
• MyVariant Identifiers: chr11:g.65636090C>A (hg19) ; chr11:g.65868619C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.738G>T MANE Select	ENSP00000309953.6:p.Glu246Asp
ENST00000307998.10:c.738G>T	ENSP00000309953.6:p.Glu246Asp
ENST00000526628.5:n.1304G>T
ENST00000527969.1:n.1423G>T
ENST00000528176.5:c.738G>T	ENSP00000434151.1:p.Glu246Asp
ENST00000531005.5:n.1732G>T
ENST00000531972.5:c.738G>T	ENSP00000435295.1:p.Glu246Asp
ENST00000532084.5:n.164G>T
NM_016938.4:c.738G>T	NP_058634.4:p.Glu246Asp
NR_037718.1:n.997G>T
NM_016938.5:c.738G>T MANE Select	NP_058634.4:p.Glu246Asp
NR_037718.2:n.863G>T