Canonical Allele Identifier: CA381352712

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635767T>G (hg19) ; chr11:g.65868296T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868296T>G , CM000673.2:g.65868296T>G	GRCh38
NC_000011.9:g.65635767T>G , CM000673.1:g.65635767T>G	GRCh37
NC_000011.8:g.65392343T>G	NCBI36
NG_012304.2:g.9639A>C
NG_053116.1:g.13235T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.973A>C MANE Select	ENSP00000309953.6:p.Asn325His
ENST00000307998.10:c.973A>C	ENSP00000309953.6:p.Asn325His
ENST00000525392.1:n.134A>C
ENST00000526628.5:n.1539A>C
ENST00000528176.5:c.973A>C	ENSP00000434151.1:p.Asn325His
ENST00000528409.1:n.207+10A>C
ENST00000530806.5:c.-26A>C	ENSP00000436526.1:n.-26A>C
ENST00000531005.5:n.1967A>C
ENST00000531645.5:c.121A>C	ENSP00000436521.1:p.Asn41His
ENST00000531972.5:c.973A>C	ENSP00000435295.1:p.Asn325His
ENST00000532084.5:n.399A>C
NM_016938.4:c.973A>C	NP_058634.4:p.Asn325His
NR_037718.1:n.1232A>C
NM_016938.5:c.973A>C MANE Select	NP_058634.4:p.Asn325His
NR_037718.2:n.1098A>C