Canonical Allele Identifier: CA6110703

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871161A>G , CM000673.2:g.65871161A>G	GRCh38
NC_000011.9:g.65638632A>G , CM000673.1:g.65638632A>G	GRCh37
NC_000011.8:g.65395208A>G	NCBI36
NG_012304.2:g.6774T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.363T>C MANE Select	NP_058634.4:p.Cys121=
ENST00000307998.11:c.363T>C MANE Select	ENSP00000309953.6:p.Cys121=
NM_016938.4:c.363T>C	NP_058634.4:p.Cys121=
NR_037718.1:n.622T>C
NR_037718.2:n.488T>C
ENST00000307998.10:c.363T>C	ENSP00000309953.6:p.Cys121=
ENST00000526624.5:c.363T>C	ENSP00000435419.1:p.Cys121=
ENST00000527378.1:c.363T>C	ENSP00000435963.1:p.Cys121=
ENST00000527969.1:n.42T>C
ENST00000528176.5:c.363T>C	ENSP00000434151.1:p.Cys121=
ENST00000530850.1:c.*175T>C	ENSP00000437238.1:n.*175T>C
ENST00000531005.5:n.859T>C
ENST00000531972.5:c.363T>C	ENSP00000435295.1:p.Cys121=
ENST00000533347.5:c.*175T>C	ENSP00000435823.1:n.*175T>C