Canonical Allele Identifier: CA381308247

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870647A>G , CM000673.2:g.65870647A>G	GRCh38
NC_000011.9:g.65638118A>G , CM000673.1:g.65638118A>G	GRCh37
NC_000011.8:g.65394694A>G	NCBI36
NG_012304.2:g.7288T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.379T>C MANE Select	NP_058634.4:p.Cys127Arg
ENST00000307998.11:c.379T>C MANE Select	ENSP00000309953.6:p.Cys127Arg
NM_016938.4:c.379T>C	NP_058634.4:p.Cys127Arg
NR_037718.1:n.638T>C
NR_037718.2:n.504T>C
ENST00000307998.10:c.379T>C	ENSP00000309953.6:p.Cys127Arg
ENST00000526624.5:c.379T>C	ENSP00000435419.1:p.Cys127Arg
ENST00000527378.1:c.379T>C	ENSP00000435963.1:p.Cys127Arg
ENST00000527969.1:n.58T>C
ENST00000528176.5:c.379T>C	ENSP00000434151.1:p.Cys127Arg
ENST00000530850.1:c.*191T>C	ENSP00000437238.1:n.*191T>C
ENST00000531005.5:n.1373T>C
ENST00000531972.5:c.379T>C	ENSP00000435295.1:p.Cys127Arg
ENST00000533347.5:c.*191T>C	ENSP00000435823.1:n.*191T>C