Canonical Allele Identifier: CA381357949

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636100T>C (hg19) ; chr11:g.65868629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868629T>C , CM000673.2:g.65868629T>C	GRCh38
NC_000011.9:g.65636100T>C , CM000673.1:g.65636100T>C	GRCh37
NC_000011.8:g.65392676T>C	NCBI36
NG_012304.2:g.9306A>G
NG_053116.1:g.13568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728A>G MANE Select	ENSP00000309953.6:p.Asp243Gly
ENST00000307998.10:c.728A>G	ENSP00000309953.6:p.Asp243Gly
ENST00000526628.5:n.1294A>G
ENST00000527969.1:n.1413A>G
ENST00000528176.5:c.728A>G	ENSP00000434151.1:p.Asp243Gly
ENST00000531005.5:n.1722A>G
ENST00000531972.5:c.728A>G	ENSP00000435295.1:p.Asp243Gly
ENST00000532084.5:n.154A>G
NM_016938.4:c.728A>G	NP_058634.4:p.Asp243Gly
NR_037718.1:n.987A>G
NM_016938.5:c.728A>G MANE Select	NP_058634.4:p.Asp243Gly
NR_037718.2:n.853A>G