Canonical Allele Identifier: CA381353559

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1303704776
• gnomAD v2: 11-65635842-A-G
• gnomAD v4: 11-65868371-A-G
• MyVariant Identifiers: chr11:g.65635842A>G (hg19) ; chr11:g.65868371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868371A>G , CM000673.2:g.65868371A>G	GRCh38
NC_000011.9:g.65635842A>G , CM000673.1:g.65635842A>G	GRCh37
NC_000011.8:g.65392418A>G	NCBI36
NG_012304.2:g.9564T>C
NG_053116.1:g.13310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.898T>C MANE Select	ENSP00000309953.6:p.Cys300Arg
ENST00000307998.10:c.898T>C	ENSP00000309953.6:p.Cys300Arg
ENST00000525392.1:n.59T>C
ENST00000526628.5:n.1464T>C
ENST00000528176.5:c.898T>C	ENSP00000434151.1:p.Cys300Arg
ENST00000528409.1:n.142T>C
ENST00000530806.5:c.-101T>C	ENSP00000436526.1:n.-101T>C
ENST00000531005.5:n.1892T>C
ENST00000531645.5:c.46T>C	ENSP00000436521.1:p.Cys16Arg
ENST00000531972.5:c.898T>C	ENSP00000435295.1:p.Cys300Arg
ENST00000532084.5:n.324T>C
NM_016938.4:c.898T>C	NP_058634.4:p.Cys300Arg
NR_037718.1:n.1157T>C
NM_016938.5:c.898T>C MANE Select	NP_058634.4:p.Cys300Arg
NR_037718.2:n.1023T>C