Canonical Allele Identifier: CA381353989

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868408A>T , CM000673.2:g.65868408A>T	GRCh38
NC_000011.9:g.65635879A>T , CM000673.1:g.65635879A>T	GRCh37
NC_000011.8:g.65392455A>T	NCBI36
NG_012304.2:g.9527T>A
NG_053116.1:g.13347A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.861T>A MANE Select	NP_058634.4:p.Cys287Ter
ENST00000307998.11:c.861T>A MANE Select	ENSP00000309953.6:p.Cys287Ter
NM_016938.4:c.861T>A	NP_058634.4:p.Cys287Ter
NR_037718.1:n.1120T>A
NR_037718.2:n.986T>A
ENST00000307998.10:c.861T>A	ENSP00000309953.6:p.Cys287Ter
ENST00000525392.1:n.22T>A
ENST00000526628.5:n.1427T>A
ENST00000528176.5:c.861T>A	ENSP00000434151.1:p.Cys287Ter
ENST00000528409.1:n.105T>A
ENST00000530806.5:c.-138T>A	ENSP00000436526.1:n.-138T>A
ENST00000531005.5:n.1855T>A
ENST00000531645.5:c.9T>A	ENSP00000436521.1:p.Cys3Ter
ENST00000531972.5:c.861T>A	ENSP00000435295.1:p.Cys287Ter
ENST00000532084.5:n.287T>A