Canonical Allele Identifier: CA381352999

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635791C>T (hg19) ; chr11:g.65868320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868320C>T , CM000673.2:g.65868320C>T	GRCh38
NC_000011.9:g.65635791C>T , CM000673.1:g.65635791C>T	GRCh37
NC_000011.8:g.65392367C>T	NCBI36
NG_012304.2:g.9615G>A
NG_053116.1:g.13259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.949G>A MANE Select	ENSP00000309953.6:p.Glu317Lys
ENST00000307998.10:c.949G>A	ENSP00000309953.6:p.Glu317Lys
ENST00000525392.1:n.110G>A
ENST00000526628.5:n.1515G>A
ENST00000528176.5:c.949G>A	ENSP00000434151.1:p.Glu317Lys
ENST00000528409.1:n.193G>A
ENST00000530806.5:c.-50G>A	ENSP00000436526.1:n.-50G>A
ENST00000531005.5:n.1943G>A
ENST00000531645.5:c.97G>A	ENSP00000436521.1:p.Glu33Lys
ENST00000531972.5:c.949G>A	ENSP00000435295.1:p.Glu317Lys
ENST00000532084.5:n.375G>A
NM_016938.4:c.949G>A	NP_058634.4:p.Glu317Lys
NR_037718.1:n.1208G>A
NM_016938.5:c.949G>A MANE Select	NP_058634.4:p.Glu317Lys
NR_037718.2:n.1074G>A