Canonical Allele Identifier: CA2614405978

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868682-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868682A>C , CM000673.2:g.65868682A>C	GRCh38
NC_000011.9:g.65636153A>C , CM000673.1:g.65636153A>C	GRCh37
NC_000011.8:g.65392729A>C	NCBI36
NG_012304.2:g.9253T>G
NG_053116.1:g.13621A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-53T>G MANE Select	ENSP00000309953.6:n.728-53T>G
ENST00000307998.10:c.728-53T>G	ENSP00000309953.6:n.728-53T>G
ENST00000526628.5:n.1241T>G
ENST00000527969.1:n.1360T>G
ENST00000528176.5:c.728-53T>G	ENSP00000434151.1:n.728-53T>G
ENST00000531005.5:n.1722-53T>G
ENST00000531972.5:c.728-53T>G	ENSP00000435295.1:n.728-53T>G
ENST00000532084.5:n.154-53T>G
NM_016938.4:c.728-53T>G	NP_058634.4:n.728-53T>G
NR_037718.1:n.987-53T>G
NM_016938.5:c.728-53T>G MANE Select	NP_058634.4:n.728-53T>G
NR_037718.2:n.853-53T>G