Canonical Allele Identifier: CA381357328

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636071G>C (hg19) ; chr11:g.65868600G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868600G>C , CM000673.2:g.65868600G>C	GRCh38
NC_000011.9:g.65636071G>C , CM000673.1:g.65636071G>C	GRCh37
NC_000011.8:g.65392647G>C	NCBI36
NG_012304.2:g.9335C>G
NG_053116.1:g.13539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.757C>G MANE Select	ENSP00000309953.6:p.Leu253Val
ENST00000307998.10:c.757C>G	ENSP00000309953.6:p.Leu253Val
ENST00000526628.5:n.1323C>G
ENST00000527969.1:n.1442C>G
ENST00000528176.5:c.757C>G	ENSP00000434151.1:p.Leu253Val
ENST00000531005.5:n.1751C>G
ENST00000531972.5:c.757C>G	ENSP00000435295.1:p.Leu253Val
ENST00000532084.5:n.183C>G
NM_016938.4:c.757C>G	NP_058634.4:p.Leu253Val
NR_037718.1:n.1016C>G
NM_016938.5:c.757C>G MANE Select	NP_058634.4:p.Leu253Val
NR_037718.2:n.882C>G