Canonical Allele Identifier: CA2792462175

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868710C>A , CM000673.2:g.65868710C>A	GRCh38
NC_000011.9:g.65636181C>A , CM000673.1:g.65636181C>A	GRCh37
NC_000011.8:g.65392757C>A	NCBI36
NG_012304.2:g.9225G>T
NG_053116.1:g.13649C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-81G>T MANE Select	ENSP00000309953.6:n.728-81G>T
ENST00000307998.10:c.728-81G>T	ENSP00000309953.6:n.728-81G>T
ENST00000526628.5:n.1213G>T
ENST00000527969.1:n.1332G>T
ENST00000528176.5:c.728-81G>T	ENSP00000434151.1:n.728-81G>T
ENST00000531005.5:n.1722-81G>T
ENST00000531972.5:c.728-81G>T	ENSP00000435295.1:n.728-81G>T
ENST00000532084.5:n.154-81G>T
NM_016938.4:c.728-81G>T	NP_058634.4:n.728-81G>T
NR_037718.1:n.987-81G>T
NM_016938.5:c.728-81G>T MANE Select	NP_058634.4:n.728-81G>T
NR_037718.2:n.853-81G>T