Canonical Allele Identifier: CA475296560

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65871359-G-A
• MyVariant Identifiers: chr11:g.65638830G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871359G>A , CM000673.2:g.65871359G>A	GRCh38
NC_000011.9:g.65638830G>A , CM000673.1:g.65638830G>A	GRCh37
NC_000011.8:g.65395406G>A	NCBI36
NG_012304.2:g.6576C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.165C>T MANE Select	ENSP00000309953.6:p.Val55=
ENST00000307998.10:c.165C>T	ENSP00000309953.6:p.Val55=
ENST00000526624.5:c.165C>T	ENSP00000435419.1:p.Val55=
ENST00000527378.1:c.165C>T	ENSP00000435963.1:p.Val55=
ENST00000528176.5:c.165C>T	ENSP00000434151.1:p.Val55=
ENST00000530850.1:c.154C>T	ENSP00000437238.1:p.Gln52Ter
ENST00000531005.5:n.661C>T
ENST00000531972.5:c.165C>T	ENSP00000435295.1:p.Val55=
ENST00000533347.5:c.211C>T	ENSP00000435823.1:p.Gln71Ter
NM_016938.4:c.165C>T	NP_058634.4:p.Val55=
NR_037718.1:n.424C>T
NM_016938.5:c.165C>T MANE Select	NP_058634.4:p.Val55=
NR_037718.2:n.290C>T