Canonical Allele Identifier: CA223978584

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1587670
• ClinVar RCV Id: RCV002103458 ; RCV002409503
• dbSNP Id: rs367732454
• gnomAD v2: 11-65638827-G-A
• gnomAD v4: 11-65871356-G-A
• MyVariant Identifiers: chr11:g.65638827G>A (hg19) ; chr11:g.65871356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871356G>A , CM000673.2:g.65871356G>A	GRCh38
NC_000011.9:g.65638827G>A , CM000673.1:g.65638827G>A	GRCh37
NC_000011.8:g.65395403G>A	NCBI36
NG_012304.2:g.6579C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.168C>T MANE Select	ENSP00000309953.6:p.Asn56=
ENST00000307998.10:c.168C>T	ENSP00000309953.6:p.Asn56=
ENST00000526624.5:c.168C>T	ENSP00000435419.1:p.Asn56=
ENST00000527378.1:c.168C>T	ENSP00000435963.1:p.Asn56=
ENST00000528176.5:c.168C>T	ENSP00000434151.1:p.Asn56=
ENST00000530850.1:c.157C>T	ENSP00000437238.1:p.Arg53Ter
ENST00000531005.5:n.664C>T
ENST00000531972.5:c.168C>T	ENSP00000435295.1:p.Asn56=
ENST00000533347.5:c.214C>T	ENSP00000435823.1:p.Arg72Ter
NM_016938.4:c.168C>T	NP_058634.4:p.Asn56=
NR_037718.1:n.427C>T
NM_016938.5:c.168C>T MANE Select	NP_058634.4:p.Asn56=
NR_037718.2:n.293C>T