Canonical Allele Identifier: CA381357326

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636070A>T (hg19) ; chr11:g.65868599A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868599A>T , CM000673.2:g.65868599A>T	GRCh38
NC_000011.9:g.65636070A>T , CM000673.1:g.65636070A>T	GRCh37
NC_000011.8:g.65392646A>T	NCBI36
NG_012304.2:g.9336T>A
NG_053116.1:g.13538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.758T>A MANE Select	ENSP00000309953.6:p.Leu253His
ENST00000307998.10:c.758T>A	ENSP00000309953.6:p.Leu253His
ENST00000526628.5:n.1324T>A
ENST00000527969.1:n.1443T>A
ENST00000528176.5:c.758T>A	ENSP00000434151.1:p.Leu253His
ENST00000531005.5:n.1752T>A
ENST00000531972.5:c.758T>A	ENSP00000435295.1:p.Leu253His
ENST00000532084.5:n.184T>A
NM_016938.4:c.758T>A	NP_058634.4:p.Leu253His
NR_037718.1:n.1017T>A
NM_016938.5:c.758T>A MANE Select	NP_058634.4:p.Leu253His
NR_037718.2:n.883T>A