Canonical Allele Identifier: CA1979445114

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 2122659
• ClinVar RCV Id: RCV003046976
• dbSNP Id: rs773745810
• gnomAD v4: 11-65871369-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871369G>A , CM000673.2:g.65871369G>A	GRCh38
NC_000011.9:g.65638840G>A , CM000673.1:g.65638840G>A	GRCh37
NC_000011.8:g.65395416G>A	NCBI36
NG_012304.2:g.6566C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.161-6C>T MANE Select	ENSP00000309953.6:n.161-6C>T
ENST00000307998.10:c.161-6C>T	ENSP00000309953.6:n.161-6C>T
ENST00000526624.5:c.161-6C>T	ENSP00000435419.1:n.161-6C>T
ENST00000527378.1:c.161-6C>T	ENSP00000435963.1:n.161-6C>T
ENST00000528176.5:c.161-6C>T	ENSP00000434151.1:n.161-6C>T
ENST00000530850.1:c.150-6C>T	ENSP00000437238.1:n.150-6C>T
ENST00000531005.5:n.651C>T
ENST00000531972.5:c.161-6C>T	ENSP00000435295.1:n.161-6C>T
ENST00000533347.5:c.201C>T	ENSP00000435823.1:p.Leu67=
NM_016938.4:c.161-6C>T	NP_058634.4:n.161-6C>T
NR_037718.1:n.420-6C>T
NM_016938.5:c.161-6C>T MANE Select	NP_058634.4:n.161-6C>T
NR_037718.2:n.286-6C>T