Canonical Allele Identifier: CA224016797

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868022G>A , CM000673.2:g.65868022G>A	GRCh38
NC_000011.9:g.65635493G>A , CM000673.1:g.65635493G>A	GRCh37
NC_000011.8:g.65392069G>A	NCBI36
NG_012304.2:g.9913C>T
NG_053116.1:g.12961G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.1009C>T MANE Select	NP_058634.4:p.Arg337Ter
ENST00000307998.11:c.1009C>T MANE Select	ENSP00000309953.6:p.Arg337Ter
NM_016938.4:c.1009C>T	NP_058634.4:p.Arg337Ter
NR_037718.1:n.1268C>T
NR_037718.2:n.1134C>T
ENST00000307998.10:c.1009C>T	ENSP00000309953.6:p.Arg337Ter
ENST00000525392.1:n.170C>T
ENST00000526628.5:n.1575C>T
ENST00000528176.5:c.1009C>T	ENSP00000434151.1:p.Arg337Ter
ENST00000528409.1:n.242C>T
ENST00000530806.5:c.-24-9C>T	ENSP00000436526.1:n.-24-9C>T
ENST00000531005.5:n.2003C>T
ENST00000531645.5:c.157C>T	ENSP00000436521.1:p.Arg53Ter
ENST00000531972.5:c.1009C>T	ENSP00000435295.1:p.Arg337Ter
ENST00000532084.5:n.435C>T