Canonical Allele Identifier: CA938938887

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859909865
• gnomAD v3: 11-65868688-A-G
• gnomAD v4: 11-65868688-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868688A>G , CM000673.2:g.65868688A>G	GRCh38
NC_000011.9:g.65636159A>G , CM000673.1:g.65636159A>G	GRCh37
NC_000011.8:g.65392735A>G	NCBI36
NG_012304.2:g.9247T>C
NG_053116.1:g.13627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-59T>C MANE Select	ENSP00000309953.6:n.728-59T>C
ENST00000307998.10:c.728-59T>C	ENSP00000309953.6:n.728-59T>C
ENST00000526628.5:n.1235T>C
ENST00000527969.1:n.1354T>C
ENST00000528176.5:c.728-59T>C	ENSP00000434151.1:n.728-59T>C
ENST00000531005.5:n.1722-59T>C
ENST00000531972.5:c.728-59T>C	ENSP00000435295.1:n.728-59T>C
ENST00000532084.5:n.154-59T>C
NM_016938.4:c.728-59T>C	NP_058634.4:n.728-59T>C
NR_037718.1:n.987-59T>C
NM_016938.5:c.728-59T>C MANE Select	NP_058634.4:n.728-59T>C
NR_037718.2:n.853-59T>C