Canonical Allele Identifier: CA679356264

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1157210141
• gnomAD v3: 11-65868678-A-G
• gnomAD v4: 11-65868678-A-G
• MyVariant Identifiers: chr11:g.65636149A>G (hg19) ; chr11:g.65868678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868678A>G , CM000673.2:g.65868678A>G	GRCh38
NC_000011.9:g.65636149A>G , CM000673.1:g.65636149A>G	GRCh37
NC_000011.8:g.65392725A>G	NCBI36
NG_012304.2:g.9257T>C
NG_053116.1:g.13617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-49T>C MANE Select	ENSP00000309953.6:n.728-49T>C
ENST00000307998.10:c.728-49T>C	ENSP00000309953.6:n.728-49T>C
ENST00000526628.5:n.1245T>C
ENST00000527969.1:n.1364T>C
ENST00000528176.5:c.728-49T>C	ENSP00000434151.1:n.728-49T>C
ENST00000531005.5:n.1722-49T>C
ENST00000531972.5:c.728-49T>C	ENSP00000435295.1:n.728-49T>C
ENST00000532084.5:n.154-49T>C
NM_016938.4:c.728-49T>C	NP_058634.4:n.728-49T>C
NR_037718.1:n.987-49T>C
NM_016938.5:c.728-49T>C MANE Select	NP_058634.4:n.728-49T>C
NR_037718.2:n.853-49T>C