Canonical Allele Identifier: CA1979443553
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868243A= , CM000673.2:g.65868243A= GRCh38
NC_000011.9:g.65635714A= , CM000673.1:g.65635714A= GRCh37
NC_000011.8:g.65392290A= NCBI36
NG_012304.2:g.9692T=
NG_053116.1:g.13182A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.974+52T= MANE Select ENSP00000309953.6:n.974+52T=
ENST00000307998.10:c.974+52T= ENSP00000309953.6:n.974+52T=
ENST00000525392.1:n.135+52T=
ENST00000526628.5:n.1540+52T=
ENST00000528176.5:c.974+52T= ENSP00000434151.1:n.974+52T=
ENST00000528409.1:n.207+63T=
ENST00000530806.5:c.-25+52T= ENSP00000436526.1:n.-25+52T=
ENST00000531005.5:n.1968+52T=
ENST00000531645.5:c.122+52T= ENSP00000436521.1:n.122+52T=
ENST00000531972.5:c.974+52T= ENSP00000435295.1:n.974+52T=
ENST00000532084.5:n.400+52T=
NM_016938.4:c.974+52T= NP_058634.4:n.974+52T=
NR_037718.1:n.1233+52T=
NM_016938.5:c.974+52T= MANE Select NP_058634.4:n.974+52T=
NR_037718.2:n.1099+52T=