Canonical Allele Identifier: CA1979440804
Community Standard Title: NM_016938.5(EFEMP2):c.608A= (p.Asp203=)
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65869976T= , CM000673.2:g.65869976T= GRCh38
NC_000011.9:g.65637447T= , CM000673.1:g.65637447T= GRCh37
NC_000011.8:g.65394023T= NCBI36
NG_012304.2:g.7959A=

Transcript Alleles

HGVS Amino-acid Change
NM_016938.5:c.608A= MANE Select NP_058634.4:p.Asp203=
ENST00000307998.11:c.608A= MANE Select ENSP00000309953.6:p.Asp203=
NM_016938.4:c.608A= NP_058634.4:p.Asp203=
NR_037718.1:n.867A=
NR_037718.2:n.733A=
ENST00000307998.10:c.608A= ENSP00000309953.6:p.Asp203=
ENST00000527969.1:n.585A=
ENST00000528176.5:c.608A= ENSP00000434151.1:p.Asp203=
ENST00000531005.5:n.1602A=
ENST00000531972.5:c.608A= ENSP00000435295.1:p.Asp203=
ENST00000533347.5:c.*420A= ENSP00000435823.1:n.*420A=