Canonical Allele Identifier: CA2724430547

Gene: EFEMP2

Linked Data

• dbSNP Id: rs2134748440

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868664G>C , CM000673.2:g.65868664G>C	GRCh38
NC_000011.9:g.65636135G>C , CM000673.1:g.65636135G>C	GRCh37
NC_000011.8:g.65392711G>C	NCBI36
NG_012304.2:g.9271C>G
NG_053116.1:g.13603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-35C>G MANE Select	ENSP00000309953.6:n.728-35C>G
ENST00000307998.10:c.728-35C>G	ENSP00000309953.6:n.728-35C>G
ENST00000526628.5:n.1259C>G
ENST00000527969.1:n.1378C>G
ENST00000528176.5:c.728-35C>G	ENSP00000434151.1:n.728-35C>G
ENST00000531005.5:n.1722-35C>G
ENST00000531972.5:c.728-35C>G	ENSP00000435295.1:n.728-35C>G
ENST00000532084.5:n.154-35C>G
NM_016938.4:c.728-35C>G	NP_058634.4:n.728-35C>G
NR_037718.1:n.987-35C>G
NM_016938.5:c.728-35C>G MANE Select	NP_058634.4:n.728-35C>G
NR_037718.2:n.853-35C>G