Canonical Allele Identifier: CA6110521

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 472833
• ClinVar RCV Id: RCV000543105 ; RCV002060351 ; RCV002420509 ; RCV003488688 ; RCV003905432
• dbSNP Id: rs150546623
• ExAC: 11:65636018 T / C
• gnomAD v2: 11-65636018-T-C
• gnomAD v3: 11-65868547-T-C
• gnomAD v4: 11-65868547-T-C
• MyVariant Identifiers: chr11:g.65636018T>C (hg19) ; chr11:g.65868547T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868547T>C , CM000673.2:g.65868547T>C	GRCh38
NC_000011.9:g.65636018T>C , CM000673.1:g.65636018T>C	GRCh37
NC_000011.8:g.65392594T>C	NCBI36
NG_012304.2:g.9388A>G
NG_053116.1:g.13486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.810A>G MANE Select	ENSP00000309953.6:p.Pro270=
ENST00000307998.10:c.810A>G	ENSP00000309953.6:p.Pro270=
ENST00000526628.5:n.1376A>G
ENST00000527969.1:n.1495A>G
ENST00000528176.5:c.810A>G	ENSP00000434151.1:p.Pro270=
ENST00000531005.5:n.1804A>G
ENST00000531972.5:c.810A>G	ENSP00000435295.1:p.Pro270=
ENST00000532084.5:n.236A>G
NM_016938.4:c.810A>G	NP_058634.4:p.Pro270=
NR_037718.1:n.1069A>G
NM_016938.5:c.810A>G MANE Select	NP_058634.4:p.Pro270=
NR_037718.2:n.935A>G