Canonical Allele Identifier: CA475296434

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65871272-G-C
• MyVariant Identifiers: chr11:g.65638743G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871272G>C , CM000673.2:g.65871272G>C	GRCh38
NC_000011.9:g.65638743G>C , CM000673.1:g.65638743G>C	GRCh37
NC_000011.8:g.65395319G>C	NCBI36
NG_012304.2:g.6663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.252C>G MANE Select	ENSP00000309953.6:p.Ser84=
ENST00000307998.10:c.252C>G	ENSP00000309953.6:p.Ser84=
ENST00000526624.5:c.252C>G	ENSP00000435419.1:p.Ser84=
ENST00000527378.1:c.252C>G	ENSP00000435963.1:p.Ser84=
ENST00000528176.5:c.252C>G	ENSP00000434151.1:p.Ser84=
ENST00000530850.1:c.*64C>G	ENSP00000437238.1:n.*64C>G
ENST00000531005.5:n.748C>G
ENST00000531972.5:c.252C>G	ENSP00000435295.1:p.Ser84=
ENST00000533347.5:c.*64C>G	ENSP00000435823.1:n.*64C>G
NM_016938.4:c.252C>G	NP_058634.4:p.Ser84=
NR_037718.1:n.511C>G
NM_016938.5:c.252C>G MANE Select	NP_058634.4:p.Ser84=
NR_037718.2:n.377C>G