Canonical Allele Identifier: CA475316620

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635804G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868333G>T , CM000673.2:g.65868333G>T	GRCh38
NC_000011.9:g.65635804G>T , CM000673.1:g.65635804G>T	GRCh37
NC_000011.8:g.65392380G>T	NCBI36
NG_012304.2:g.9602C>A
NG_053116.1:g.13272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.936C>A MANE Select	ENSP00000309953.6:p.Thr312=
ENST00000307998.10:c.936C>A	ENSP00000309953.6:p.Thr312=
ENST00000525392.1:n.97C>A
ENST00000526628.5:n.1502C>A
ENST00000528176.5:c.936C>A	ENSP00000434151.1:p.Thr312=
ENST00000528409.1:n.180C>A
ENST00000530806.5:c.-63C>A	ENSP00000436526.1:n.-63C>A
ENST00000531005.5:n.1930C>A
ENST00000531645.5:c.84C>A	ENSP00000436521.1:p.Thr28=
ENST00000531972.5:c.936C>A	ENSP00000435295.1:p.Thr312=
ENST00000532084.5:n.362C>A
NM_016938.4:c.936C>A	NP_058634.4:p.Thr312=
NR_037718.1:n.1195C>A
NM_016938.5:c.936C>A MANE Select	NP_058634.4:p.Thr312=
NR_037718.2:n.1061C>A