Canonical Allele Identifier: CA1979444621
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868547T= , CM000673.2:g.65868547T= GRCh38
NC_000011.9:g.65636018T= , CM000673.1:g.65636018T= GRCh37
NC_000011.8:g.65392594T= NCBI36
NG_012304.2:g.9388A=
NG_053116.1:g.13486T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.810A= MANE Select ENSP00000309953.6:p.Pro270=
ENST00000307998.10:c.810A= ENSP00000309953.6:p.Pro270=
ENST00000526628.5:n.1376A=
ENST00000527969.1:n.1495A=
ENST00000528176.5:c.810A= ENSP00000434151.1:p.Pro270=
ENST00000531005.5:n.1804A=
ENST00000531972.5:c.810A= ENSP00000435295.1:p.Pro270=
ENST00000532084.5:n.236A=
NM_016938.4:c.810A= NP_058634.4:p.Pro270=
NR_037718.1:n.1069A=
NM_016938.5:c.810A= MANE Select NP_058634.4:p.Pro270=
NR_037718.2:n.935A=