Canonical Allele Identifier: CA381359951

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65869978T>C , CM000673.2:g.65869978T>C	GRCh38
NC_000011.9:g.65637449T>C , CM000673.1:g.65637449T>C	GRCh37
NC_000011.8:g.65394025T>C	NCBI36
NG_012304.2:g.7957A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.608-2A>G MANE Select	NP_058634.4:n.608-2A>G
ENST00000307998.11:c.608-2A>G MANE Select	ENSP00000309953.6:n.608-2A>G
NM_016938.4:c.608-2A>G	NP_058634.4:n.608-2A>G
NR_037718.1:n.867-2A>G
NR_037718.2:n.733-2A>G
ENST00000307998.10:c.608-2A>G	ENSP00000309953.6:n.608-2A>G
ENST00000527969.1:n.585-2A>G
ENST00000528176.5:c.608-2A>G	ENSP00000434151.1:n.608-2A>G
ENST00000531005.5:n.1602-2A>G
ENST00000531972.5:c.608-2A>G	ENSP00000435295.1:n.608-2A>G
ENST00000533347.5:c.*420-2A>G	ENSP00000435823.1:n.*420-2A>G