Canonical Allele Identifier: CA381357486

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636077T>G (hg19) ; chr11:g.65868606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868606T>G , CM000673.2:g.65868606T>G	GRCh38
NC_000011.9:g.65636077T>G , CM000673.1:g.65636077T>G	GRCh37
NC_000011.8:g.65392653T>G	NCBI36
NG_012304.2:g.9329A>C
NG_053116.1:g.13545T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.751A>C MANE Select	ENSP00000309953.6:p.Ser251Arg
ENST00000307998.10:c.751A>C	ENSP00000309953.6:p.Ser251Arg
ENST00000526628.5:n.1317A>C
ENST00000527969.1:n.1436A>C
ENST00000528176.5:c.751A>C	ENSP00000434151.1:p.Ser251Arg
ENST00000531005.5:n.1745A>C
ENST00000531972.5:c.751A>C	ENSP00000435295.1:p.Ser251Arg
ENST00000532084.5:n.177A>C
NM_016938.4:c.751A>C	NP_058634.4:p.Ser251Arg
NR_037718.1:n.1010A>C
NM_016938.5:c.751A>C MANE Select	NP_058634.4:p.Ser251Arg
NR_037718.2:n.876A>C