Canonical Allele Identifier: CA1979445089
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65871358T= , CM000673.2:g.65871358T= GRCh38
NC_000011.9:g.65638829T= , CM000673.1:g.65638829T= GRCh37
NC_000011.8:g.65395405T= NCBI36
NG_012304.2:g.6577A=

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.166A= MANE Select ENSP00000309953.6:p.Asn56=
ENST00000307998.10:c.166A= ENSP00000309953.6:p.Asn56=
ENST00000526624.5:c.166A= ENSP00000435419.1:p.Asn56=
ENST00000527378.1:c.166A= ENSP00000435963.1:p.Asn56=
ENST00000528176.5:c.166A= ENSP00000434151.1:p.Asn56=
ENST00000530850.1:c.155A= ENSP00000437238.1:p.Gln52=
ENST00000531005.5:n.662A=
ENST00000531972.5:c.166A= ENSP00000435295.1:p.Asn56=
ENST00000533347.5:c.212A= ENSP00000435823.1:p.Gln71=
NM_016938.4:c.166A= NP_058634.4:p.Asn56=
NR_037718.1:n.425A=
NM_016938.5:c.166A= MANE Select NP_058634.4:p.Asn56=
NR_037718.2:n.291A=