Canonical Allele Identifier: CA381310094

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638753A>T (hg19) ; chr11:g.65871282A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871282A>T , CM000673.2:g.65871282A>T	GRCh38
NC_000011.9:g.65638753A>T , CM000673.1:g.65638753A>T	GRCh37
NC_000011.8:g.65395329A>T	NCBI36
NG_012304.2:g.6653T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.242T>A MANE Select	ENSP00000309953.6:p.Leu81Gln
ENST00000307998.10:c.242T>A	ENSP00000309953.6:p.Leu81Gln
ENST00000526624.5:c.242T>A	ENSP00000435419.1:p.Leu81Gln
ENST00000527378.1:c.242T>A	ENSP00000435963.1:p.Leu81Gln
ENST00000528176.5:c.242T>A	ENSP00000434151.1:p.Leu81Gln
ENST00000530850.1:c.*54T>A	ENSP00000437238.1:n.*54T>A
ENST00000531005.5:n.738T>A
ENST00000531972.5:c.242T>A	ENSP00000435295.1:p.Leu81Gln
ENST00000533347.5:c.*54T>A	ENSP00000435823.1:n.*54T>A
NM_016938.4:c.242T>A	NP_058634.4:p.Leu81Gln
NR_037718.1:n.501T>A
NM_016938.5:c.242T>A MANE Select	NP_058634.4:p.Leu81Gln
NR_037718.2:n.367T>A