Canonical Allele Identifier: CA6110493

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868395G>A , CM000673.2:g.65868395G>A	GRCh38
NC_000011.9:g.65635866G>A , CM000673.1:g.65635866G>A	GRCh37
NC_000011.8:g.65392442G>A	NCBI36
NG_012304.2:g.9540C>T
NG_053116.1:g.13334G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.874C>T MANE Select	NP_058634.4:p.His292Tyr
ENST00000307998.11:c.874C>T MANE Select	ENSP00000309953.6:p.His292Tyr
NM_016938.4:c.874C>T	NP_058634.4:p.His292Tyr
NR_037718.1:n.1133C>T
NR_037718.2:n.999C>T
ENST00000307998.10:c.874C>T	ENSP00000309953.6:p.His292Tyr
ENST00000525392.1:n.35C>T
ENST00000526628.5:n.1440C>T
ENST00000528176.5:c.874C>T	ENSP00000434151.1:p.His292Tyr
ENST00000528409.1:n.118C>T
ENST00000530806.5:c.-125C>T	ENSP00000436526.1:n.-125C>T
ENST00000531005.5:n.1868C>T
ENST00000531645.5:c.22C>T	ENSP00000436521.1:p.His8Tyr
ENST00000531972.5:c.874C>T	ENSP00000435295.1:p.His292Tyr
ENST00000532084.5:n.300C>T