Canonical Allele Identifier: CA1979443504
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868236G= , CM000673.2:g.65868236G= GRCh38
NC_000011.9:g.65635707G= , CM000673.1:g.65635707G= GRCh37
NC_000011.8:g.65392283G= NCBI36
NG_012304.2:g.9699C=
NG_053116.1:g.13175G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.974+59C= MANE Select ENSP00000309953.6:n.974+59C=
ENST00000307998.10:c.974+59C= ENSP00000309953.6:n.974+59C=
ENST00000525392.1:n.135+59C=
ENST00000526628.5:n.1540+59C=
ENST00000528176.5:c.974+59C= ENSP00000434151.1:n.974+59C=
ENST00000528409.1:n.207+70C=
ENST00000530806.5:c.-25+59C= ENSP00000436526.1:n.-25+59C=
ENST00000531005.5:n.1968+59C=
ENST00000531645.5:c.122+59C= ENSP00000436521.1:n.122+59C=
ENST00000531972.5:c.974+59C= ENSP00000435295.1:n.974+59C=
ENST00000532084.5:n.400+59C=
NM_016938.4:c.974+59C= NP_058634.4:n.974+59C=
NR_037718.1:n.1233+59C=
NM_016938.5:c.974+59C= MANE Select NP_058634.4:n.974+59C=
NR_037718.2:n.1099+59C=