Canonical Allele Identifier: CA2614404845

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868236-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868239_65868240dup , CM000673.2:g.65868239_65868240dup	GRCh38
NC_000011.9:g.65635710_65635711dup , CM000673.1:g.65635710_65635711dup	GRCh37
NC_000011.8:g.65392286_65392287dup	NCBI36
NG_012304.2:g.9697_9698dup
NG_053116.1:g.13178_13179dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.974+57_974+58dup MANE Select	ENSP00000309953.6:n.974+57_974+58dup
ENST00000307998.10:c.974+57_974+58dup	ENSP00000309953.6:n.974+57_974+58dup
ENST00000525392.1:n.135+57_135+58dup
ENST00000526628.5:n.1540+57_1540+58dup
ENST00000528176.5:c.974+57_974+58dup	ENSP00000434151.1:n.974+57_974+58dup
ENST00000528409.1:n.207+68_207+69dup
ENST00000530806.5:c.-25+57_-25+58dup	ENSP00000436526.1:n.-25+57_-25+58dup
ENST00000531005.5:n.1968+57_1968+58dup
ENST00000531645.5:c.122+57_122+58dup	ENSP00000436521.1:n.122+57_122+58dup
ENST00000531972.5:c.974+57_974+58dup	ENSP00000435295.1:n.974+57_974+58dup
ENST00000532084.5:n.400+57_400+58dup
NM_016938.4:c.974+57_974+58dup	NP_058634.4:n.974+57_974+58dup
NR_037718.1:n.1233+57_1233+58dup
NM_016938.5:c.974+57_974+58dup MANE Select	NP_058634.4:n.974+57_974+58dup
NR_037718.2:n.1099+57_1099+58dup