Canonical Allele Identifier: CA938940038

Gene: EFEMP2

Linked Data

• gnomAD v3: 11-65871370-A-AGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGC
• gnomAD v4: 11-65871370-A-AGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871372_65871421dup , CM000673.2:g.65871372_65871421dup	GRCh38
NC_000011.9:g.65638843_65638892dup , CM000673.1:g.65638843_65638892dup	GRCh37
NC_000011.8:g.65395419_65395468dup	NCBI36
NG_012304.2:g.6515_6564dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.161-57_161-8dup MANE Select	ENSP00000309953.6:n.161-57_161-8dup
ENST00000307998.10:c.161-57_161-8dup	ENSP00000309953.6:n.161-57_161-8dup
ENST00000526624.5:c.161-57_161-8dup	ENSP00000435419.1:n.161-57_161-8dup
ENST00000527378.1:c.161-57_161-8dup	ENSP00000435963.1:n.161-57_161-8dup
ENST00000528176.5:c.161-57_161-8dup	ENSP00000434151.1:n.161-57_161-8dup
ENST00000530850.1:c.150-57_150-8dup	ENSP00000437238.1:n.150-57_150-8dup
ENST00000531005.5:n.600_649dup
ENST00000531972.5:c.161-57_161-8dup	ENSP00000435295.1:n.161-57_161-8dup
ENST00000533347.5:c.161-11_199dup
NM_016938.4:c.161-57_161-8dup	NP_058634.4:n.161-57_161-8dup
NR_037718.1:n.420-57_420-8dup
NM_016938.5:c.161-57_161-8dup MANE Select	NP_058634.4:n.161-57_161-8dup
NR_037718.2:n.286-57_286-8dup