Canonical Allele Identifier: CA1979443590
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868253G= , CM000673.2:g.65868253G= GRCh38
NC_000011.9:g.65635724G= , CM000673.1:g.65635724G= GRCh37
NC_000011.8:g.65392300G= NCBI36
NG_012304.2:g.9682C=
NG_053116.1:g.13192G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.974+42C= MANE Select ENSP00000309953.6:n.974+42C=
ENST00000307998.10:c.974+42C= ENSP00000309953.6:n.974+42C=
ENST00000525392.1:n.135+42C=
ENST00000526628.5:n.1540+42C=
ENST00000528176.5:c.974+42C= ENSP00000434151.1:n.974+42C=
ENST00000528409.1:n.207+53C=
ENST00000530806.5:c.-25+42C= ENSP00000436526.1:n.-25+42C=
ENST00000531005.5:n.1968+42C=
ENST00000531645.5:c.122+42C= ENSP00000436521.1:n.122+42C=
ENST00000531972.5:c.974+42C= ENSP00000435295.1:n.974+42C=
ENST00000532084.5:n.400+42C=
NM_016938.4:c.974+42C= NP_058634.4:n.974+42C=
NR_037718.1:n.1233+42C=
NM_016938.5:c.974+42C= MANE Select NP_058634.4:n.974+42C=
NR_037718.2:n.1099+42C=