Canonical Allele Identifier: CA6110628

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870222C>T , CM000673.2:g.65870222C>T	GRCh38
NC_000011.9:g.65637693C>T , CM000673.1:g.65637693C>T	GRCh37
NC_000011.8:g.65394269C>T	NCBI36
NG_012304.2:g.7713G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.506G>A MANE Select	NP_058634.4:p.Arg169His
ENST00000307998.11:c.506G>A MANE Select	ENSP00000309953.6:p.Arg169His
NM_016938.4:c.506G>A	NP_058634.4:p.Arg169His
NR_037718.1:n.765G>A
NR_037718.2:n.631G>A
ENST00000307998.10:c.506G>A	ENSP00000309953.6:p.Arg169His
ENST00000526624.5:c.506G>A	ENSP00000435419.1:p.Arg169His
ENST00000527378.1:c.506G>A	ENSP00000435963.1:p.Arg169His
ENST00000527969.1:n.483G>A
ENST00000528176.5:c.506G>A	ENSP00000434151.1:p.Arg169His
ENST00000530850.1:c.*318G>A	ENSP00000437238.1:n.*318G>A
ENST00000531005.5:n.1500G>A
ENST00000531972.5:c.506G>A	ENSP00000435295.1:p.Arg169His
ENST00000533347.5:c.*318G>A	ENSP00000435823.1:n.*318G>A