Canonical Allele Identifier: CA223978526

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871277G>A , CM000673.2:g.65871277G>A	GRCh38
NC_000011.9:g.65638748G>A , CM000673.1:g.65638748G>A	GRCh37
NC_000011.8:g.65395324G>A	NCBI36
NG_012304.2:g.6658C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.247C>T MANE Select	NP_058634.4:p.Arg83Cys
ENST00000307998.11:c.247C>T MANE Select	ENSP00000309953.6:p.Arg83Cys
NM_016938.4:c.247C>T	NP_058634.4:p.Arg83Cys
NR_037718.1:n.506C>T
NR_037718.2:n.372C>T
ENST00000307998.10:c.247C>T	ENSP00000309953.6:p.Arg83Cys
ENST00000526624.5:c.247C>T	ENSP00000435419.1:p.Arg83Cys
ENST00000527378.1:c.247C>T	ENSP00000435963.1:p.Arg83Cys
ENST00000528176.5:c.247C>T	ENSP00000434151.1:p.Arg83Cys
ENST00000530850.1:c.*59C>T	ENSP00000437238.1:n.*59C>T
ENST00000531005.5:n.743C>T
ENST00000531972.5:c.247C>T	ENSP00000435295.1:p.Arg83Cys
ENST00000533347.5:c.*59C>T	ENSP00000435823.1:n.*59C>T