Canonical Allele Identifier: CA475317398

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65870549-C-A
• MyVariant Identifiers: chr11:g.65638020C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870549C>A , CM000673.2:g.65870549C>A	GRCh38
NC_000011.9:g.65638020C>A , CM000673.1:g.65638020C>A	GRCh37
NC_000011.8:g.65394596C>A	NCBI36
NG_012304.2:g.7386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.477G>T MANE Select	ENSP00000309953.6:p.Gly159=
ENST00000307998.10:c.477G>T	ENSP00000309953.6:p.Gly159=
ENST00000526624.5:c.477G>T	ENSP00000435419.1:p.Gly159=
ENST00000527378.1:c.477G>T	ENSP00000435963.1:p.Gly159=
ENST00000527969.1:n.156G>T
ENST00000528176.5:c.477G>T	ENSP00000434151.1:p.Gly159=
ENST00000530850.1:c.*289G>T	ENSP00000437238.1:n.*289G>T
ENST00000531005.5:n.1471G>T
ENST00000531972.5:c.477G>T	ENSP00000435295.1:p.Gly159=
ENST00000533347.5:c.*289G>T	ENSP00000435823.1:n.*289G>T
NM_016938.4:c.477G>T	NP_058634.4:p.Gly159=
NR_037718.1:n.736G>T
NM_016938.5:c.477G>T MANE Select	NP_058634.4:p.Gly159=
NR_037718.2:n.602G>T