Canonical Allele Identifier: CA381353628

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868379-G-A
• MyVariant Identifiers: chr11:g.65635850G>A (hg19) ; chr11:g.65868379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868379G>A , CM000673.2:g.65868379G>A	GRCh38
NC_000011.9:g.65635850G>A , CM000673.1:g.65635850G>A	GRCh37
NC_000011.8:g.65392426G>A	NCBI36
NG_012304.2:g.9556C>T
NG_053116.1:g.13318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.890C>T MANE Select	ENSP00000309953.6:p.Ala297Val
ENST00000307998.10:c.890C>T	ENSP00000309953.6:p.Ala297Val
ENST00000525392.1:n.51C>T
ENST00000526628.5:n.1456C>T
ENST00000528176.5:c.890C>T	ENSP00000434151.1:p.Ala297Val
ENST00000528409.1:n.134C>T
ENST00000530806.5:c.-109C>T	ENSP00000436526.1:n.-109C>T
ENST00000531005.5:n.1884C>T
ENST00000531645.5:c.38C>T	ENSP00000436521.1:p.Ala13Val
ENST00000531972.5:c.890C>T	ENSP00000435295.1:p.Ala297Val
ENST00000532084.5:n.316C>T
NM_016938.4:c.890C>T	NP_058634.4:p.Ala297Val
NR_037718.1:n.1149C>T
NM_016938.5:c.890C>T MANE Select	NP_058634.4:p.Ala297Val
NR_037718.2:n.1015C>T