Canonical Allele Identifier: CA6110472

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868323C>A , CM000673.2:g.65868323C>A	GRCh38
NC_000011.9:g.65635794C>A , CM000673.1:g.65635794C>A	GRCh37
NC_000011.8:g.65392370C>A	NCBI36
NG_012304.2:g.9612G>T
NG_053116.1:g.13262C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.946G>T MANE Select	NP_058634.4:p.Val316Leu
ENST00000307998.11:c.946G>T MANE Select	ENSP00000309953.6:p.Val316Leu
NM_016938.4:c.946G>T	NP_058634.4:p.Val316Leu
NR_037718.1:n.1205G>T
NR_037718.2:n.1071G>T
ENST00000307998.10:c.946G>T	ENSP00000309953.6:p.Val316Leu
ENST00000525392.1:n.107G>T
ENST00000526628.5:n.1512G>T
ENST00000528176.5:c.946G>T	ENSP00000434151.1:p.Val316Leu
ENST00000528409.1:n.190G>T
ENST00000530806.5:c.-53G>T	ENSP00000436526.1:n.-53G>T
ENST00000531005.5:n.1940G>T
ENST00000531645.5:c.94G>T	ENSP00000436521.1:p.Val32Leu
ENST00000531972.5:c.946G>T	ENSP00000435295.1:p.Val316Leu
ENST00000532084.5:n.372G>T