Canonical Allele Identifier: CA381353253

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635812C>A (hg19) ; chr11:g.65868341C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868341C>A , CM000673.2:g.65868341C>A	GRCh38
NC_000011.9:g.65635812C>A , CM000673.1:g.65635812C>A	GRCh37
NC_000011.8:g.65392388C>A	NCBI36
NG_012304.2:g.9594G>T
NG_053116.1:g.13280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.928G>T MANE Select	ENSP00000309953.6:p.Val310Leu
ENST00000307998.10:c.928G>T	ENSP00000309953.6:p.Val310Leu
ENST00000525392.1:n.89G>T
ENST00000526628.5:n.1494G>T
ENST00000528176.5:c.928G>T	ENSP00000434151.1:p.Val310Leu
ENST00000528409.1:n.172G>T
ENST00000530806.5:c.-71G>T	ENSP00000436526.1:n.-71G>T
ENST00000531005.5:n.1922G>T
ENST00000531645.5:c.76G>T	ENSP00000436521.1:p.Val26Leu
ENST00000531972.5:c.928G>T	ENSP00000435295.1:p.Val310Leu
ENST00000532084.5:n.354G>T
NM_016938.4:c.928G>T	NP_058634.4:p.Val310Leu
NR_037718.1:n.1187G>T
NM_016938.5:c.928G>T MANE Select	NP_058634.4:p.Val310Leu
NR_037718.2:n.1053G>T