Canonical Allele Identifier: CA475316686

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635991G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868520G>C , CM000673.2:g.65868520G>C	GRCh38
NC_000011.9:g.65635991G>C , CM000673.1:g.65635991G>C	GRCh37
NC_000011.8:g.65392567G>C	NCBI36
NG_012304.2:g.9415C>G
NG_053116.1:g.13459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.837C>G MANE Select	ENSP00000309953.6:p.Arg279=
ENST00000307998.10:c.837C>G	ENSP00000309953.6:p.Arg279=
ENST00000526628.5:n.1403C>G
ENST00000527969.1:n.1522C>G
ENST00000528176.5:c.837C>G	ENSP00000434151.1:p.Arg279=
ENST00000530806.5:c.-162C>G	ENSP00000436526.1:n.-162C>G
ENST00000531005.5:n.1831C>G
ENST00000531972.5:c.837C>G	ENSP00000435295.1:p.Arg279=
ENST00000532084.5:n.263C>G
NM_016938.4:c.837C>G	NP_058634.4:p.Arg279=
NR_037718.1:n.1096C>G
NM_016938.5:c.837C>G MANE Select	NP_058634.4:p.Arg279=
NR_037718.2:n.962C>G