Canonical Allele Identifier: CA381310127

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638757A>T (hg19) ; chr11:g.65871286A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871286A>T , CM000673.2:g.65871286A>T	GRCh38
NC_000011.9:g.65638757A>T , CM000673.1:g.65638757A>T	GRCh37
NC_000011.8:g.65395333A>T	NCBI36
NG_012304.2:g.6649T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.238T>A MANE Select	ENSP00000309953.6:p.Cys80Ser
ENST00000307998.10:c.238T>A	ENSP00000309953.6:p.Cys80Ser
ENST00000526624.5:c.238T>A	ENSP00000435419.1:p.Cys80Ser
ENST00000527378.1:c.238T>A	ENSP00000435963.1:p.Cys80Ser
ENST00000528176.5:c.238T>A	ENSP00000434151.1:p.Cys80Ser
ENST00000530850.1:c.*50T>A	ENSP00000437238.1:n.*50T>A
ENST00000531005.5:n.734T>A
ENST00000531972.5:c.238T>A	ENSP00000435295.1:p.Cys80Ser
ENST00000533347.5:c.*50T>A	ENSP00000435823.1:n.*50T>A
NM_016938.4:c.238T>A	NP_058634.4:p.Cys80Ser
NR_037718.1:n.497T>A
NM_016938.5:c.238T>A MANE Select	NP_058634.4:p.Cys80Ser
NR_037718.2:n.363T>A