Canonical Allele Identifier: CA381357714

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636089A>T (hg19) ; chr11:g.65868618A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868618A>T , CM000673.2:g.65868618A>T	GRCh38
NC_000011.9:g.65636089A>T , CM000673.1:g.65636089A>T	GRCh37
NC_000011.8:g.65392665A>T	NCBI36
NG_012304.2:g.9317T>A
NG_053116.1:g.13557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.739T>A MANE Select	ENSP00000309953.6:p.Cys247Ser
ENST00000307998.10:c.739T>A	ENSP00000309953.6:p.Cys247Ser
ENST00000526628.5:n.1305T>A
ENST00000527969.1:n.1424T>A
ENST00000528176.5:c.739T>A	ENSP00000434151.1:p.Cys247Ser
ENST00000531005.5:n.1733T>A
ENST00000531972.5:c.739T>A	ENSP00000435295.1:p.Cys247Ser
ENST00000532084.5:n.165T>A
NM_016938.4:c.739T>A	NP_058634.4:p.Cys247Ser
NR_037718.1:n.998T>A
NM_016938.5:c.739T>A MANE Select	NP_058634.4:p.Cys247Ser
NR_037718.2:n.864T>A