Canonical Allele Identifier: CA475316790

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859905952
• gnomAD v3: 11-65868562-G-A
• gnomAD v4: 11-65868562-G-A
• MyVariant Identifiers: chr11:g.65636033G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868562G>A , CM000673.2:g.65868562G>A	GRCh38
NC_000011.9:g.65636033G>A , CM000673.1:g.65636033G>A	GRCh37
NC_000011.8:g.65392609G>A	NCBI36
NG_012304.2:g.9373C>T
NG_053116.1:g.13501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.795C>T MANE Select	ENSP00000309953.6:p.Phe265=
ENST00000307998.10:c.795C>T	ENSP00000309953.6:p.Phe265=
ENST00000526628.5:n.1361C>T
ENST00000527969.1:n.1480C>T
ENST00000528176.5:c.795C>T	ENSP00000434151.1:p.Phe265=
ENST00000531005.5:n.1789C>T
ENST00000531972.5:c.795C>T	ENSP00000435295.1:p.Phe265=
ENST00000532084.5:n.221C>T
NM_016938.4:c.795C>T	NP_058634.4:p.Phe265=
NR_037718.1:n.1054C>T
NM_016938.5:c.795C>T MANE Select	NP_058634.4:p.Phe265=
NR_037718.2:n.920C>T