Canonical Allele Identifier: CA2614405782

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868583-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868584_65868585dup , CM000673.2:g.65868584_65868585dup	GRCh38
NC_000011.9:g.65636055_65636056dup , CM000673.1:g.65636055_65636056dup	GRCh37
NC_000011.8:g.65392631_65392632dup	NCBI36
NG_012304.2:g.9350_9351dup
NG_053116.1:g.13523_13524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.772_773dup MANE Select	ENSP00000309953.6:p.Ile259AlafsTer?
ENST00000307998.10:c.772_773dup	ENSP00000309953.6:p.Ile259AlafsTer?
ENST00000526628.5:n.1338_1339dup
ENST00000527969.1:n.1457_1458dup
ENST00000528176.5:c.772_773dup	ENSP00000434151.1:p.Ile259AlafsTer?
ENST00000531005.5:n.1766_1767dup
ENST00000531972.5:c.772_773dup	ENSP00000435295.1:p.Ile259AlafsTer?
ENST00000532084.5:n.198_199dup
NM_016938.4:c.772_773dup	NP_058634.4:p.Ile259AlafsTer?
NR_037718.1:n.1031_1032dup
NM_016938.5:c.772_773dup MANE Select	NP_058634.4:p.Ile259AlafsTer?
NR_037718.2:n.897_898dup