Canonical Allele Identifier: CA6110630

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870229C>A , CM000673.2:g.65870229C>A	GRCh38
NC_000011.9:g.65637700C>A , CM000673.1:g.65637700C>A	GRCh37
NC_000011.8:g.65394276C>A	NCBI36
NG_012304.2:g.7706G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.499G>T MANE Select	NP_058634.4:p.Glu167Ter
ENST00000307998.11:c.499G>T MANE Select	ENSP00000309953.6:p.Glu167Ter
NM_016938.4:c.499G>T	NP_058634.4:p.Glu167Ter
NR_037718.1:n.758G>T
NR_037718.2:n.624G>T
ENST00000307998.10:c.499G>T	ENSP00000309953.6:p.Glu167Ter
ENST00000526624.5:c.499G>T	ENSP00000435419.1:p.Glu167Ter
ENST00000527378.1:c.499G>T	ENSP00000435963.1:p.Glu167Ter
ENST00000527969.1:n.476G>T
ENST00000528176.5:c.499G>T	ENSP00000434151.1:p.Glu167Ter
ENST00000530850.1:c.*311G>T	ENSP00000437238.1:n.*311G>T
ENST00000531005.5:n.1493G>T
ENST00000531972.5:c.499G>T	ENSP00000435295.1:p.Glu167Ter
ENST00000533347.5:c.*311G>T	ENSP00000435823.1:n.*311G>T