Canonical Allele Identifier: CA2832561115

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871298dup , CM000673.2:g.65871298dup	GRCh38
NC_000011.9:g.65638769dup , CM000673.1:g.65638769dup	GRCh37
NC_000011.8:g.65395345dup	NCBI36
NG_012304.2:g.6641dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.230dup MANE Select	ENSP00000309953.6:p.Tyr78LeufsTer?
ENST00000307998.10:c.230dup	ENSP00000309953.6:p.Tyr78LeufsTer?
ENST00000526624.5:c.230dup	ENSP00000435419.1:p.Tyr78LeufsTer?
ENST00000527378.1:c.230dup	ENSP00000435963.1:p.Tyr78LeufsTer?
ENST00000528176.5:c.230dup	ENSP00000434151.1:p.Tyr78LeufsTer?
ENST00000530850.1:c.*42dup	ENSP00000437238.1:n.*42dup
ENST00000531005.5:n.726dup
ENST00000531972.5:c.230dup	ENSP00000435295.1:p.Tyr78LeufsTer?
ENST00000533347.5:c.*42dup	ENSP00000435823.1:n.*42dup
NM_016938.4:c.230dup	NP_058634.4:p.Tyr78LeufsTer?
NR_037718.1:n.489dup
NM_016938.5:c.230dup MANE Select	NP_058634.4:p.Tyr78LeufsTer?
NR_037718.2:n.355dup