Canonical Allele Identifier: CA475296448

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638752C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871281C>T , CM000673.2:g.65871281C>T	GRCh38
NC_000011.9:g.65638752C>T , CM000673.1:g.65638752C>T	GRCh37
NC_000011.8:g.65395328C>T	NCBI36
NG_012304.2:g.6654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.243G>A MANE Select	ENSP00000309953.6:p.Leu81=
ENST00000307998.10:c.243G>A	ENSP00000309953.6:p.Leu81=
ENST00000526624.5:c.243G>A	ENSP00000435419.1:p.Leu81=
ENST00000527378.1:c.243G>A	ENSP00000435963.1:p.Leu81=
ENST00000528176.5:c.243G>A	ENSP00000434151.1:p.Leu81=
ENST00000530850.1:c.*55G>A	ENSP00000437238.1:n.*55G>A
ENST00000531005.5:n.739G>A
ENST00000531972.5:c.243G>A	ENSP00000435295.1:p.Leu81=
ENST00000533347.5:c.*55G>A	ENSP00000435823.1:n.*55G>A
NM_016938.4:c.243G>A	NP_058634.4:p.Leu81=
NR_037718.1:n.502G>A
NM_016938.5:c.243G>A MANE Select	NP_058634.4:p.Leu81=
NR_037718.2:n.368G>A