Canonical Allele Identifier: CA2614405476

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868446-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868446A>C , CM000673.2:g.65868446A>C	GRCh38
NC_000011.9:g.65635917A>C , CM000673.1:g.65635917A>C	GRCh37
NC_000011.8:g.65392493A>C	NCBI36
NG_012304.2:g.9489T>G
NG_053116.1:g.13385A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.848-25T>G MANE Select	ENSP00000309953.6:n.848-25T>G
ENST00000307998.10:c.848-25T>G	ENSP00000309953.6:n.848-25T>G
ENST00000526628.5:n.1414-25T>G
ENST00000528176.5:c.848-25T>G	ENSP00000434151.1:n.848-25T>G
ENST00000528409.1:n.67T>G
ENST00000530806.5:c.-151-25T>G	ENSP00000436526.1:n.-151-25T>G
ENST00000531005.5:n.1842-25T>G
ENST00000531972.5:c.848-25T>G	ENSP00000435295.1:n.848-25T>G
ENST00000532084.5:n.274-25T>G
NM_016938.4:c.848-25T>G	NP_058634.4:n.848-25T>G
NR_037718.1:n.1107-25T>G
NM_016938.5:c.848-25T>G MANE Select	NP_058634.4:n.848-25T>G
NR_037718.2:n.973-25T>G