Canonical Allele Identifier: CA381356504

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 2507211
• ClinVar RCV Id: RCV003239102
• MyVariant Identifiers: chr11:g.65636019G>A (hg19) ; chr11:g.65868548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868548G>A , CM000673.2:g.65868548G>A	GRCh38
NC_000011.9:g.65636019G>A , CM000673.1:g.65636019G>A	GRCh37
NC_000011.8:g.65392595G>A	NCBI36
NG_012304.2:g.9387C>T
NG_053116.1:g.13487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.809C>T MANE Select	ENSP00000309953.6:p.Pro270Leu
ENST00000307998.10:c.809C>T	ENSP00000309953.6:p.Pro270Leu
ENST00000526628.5:n.1375C>T
ENST00000527969.1:n.1494C>T
ENST00000528176.5:c.809C>T	ENSP00000434151.1:p.Pro270Leu
ENST00000531005.5:n.1803C>T
ENST00000531972.5:c.809C>T	ENSP00000435295.1:p.Pro270Leu
ENST00000532084.5:n.235C>T
NM_016938.4:c.809C>T	NP_058634.4:p.Pro270Leu
NR_037718.1:n.1068C>T
NM_016938.5:c.809C>T MANE Select	NP_058634.4:p.Pro270Leu
NR_037718.2:n.934C>T