Canonical Allele Identifier: CA6110768

Gene: EFEMP2

Linked Data

• dbSNP Id: rs771589109
• ExAC: 11:65638910 C / G
• gnomAD v2: 11-65638910-C-G
• gnomAD v3: 11-65871439-C-G
• gnomAD v4: 11-65871439-C-G
• MyVariant Identifiers: chr11:g.65638910C>G (hg19) ; chr11:g.65871439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871439C>G , CM000673.2:g.65871439C>G	GRCh38
NC_000011.9:g.65638910C>G , CM000673.1:g.65638910C>G	GRCh37
NC_000011.8:g.65395486C>G	NCBI36
NG_012304.2:g.6496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.161-76G>C MANE Select	ENSP00000309953.6:n.161-76G>C
ENST00000307998.10:c.161-76G>C	ENSP00000309953.6:n.161-76G>C
ENST00000526624.5:c.161-76G>C	ENSP00000435419.1:n.161-76G>C
ENST00000527378.1:c.161-76G>C	ENSP00000435963.1:n.161-76G>C
ENST00000528176.5:c.161-76G>C	ENSP00000434151.1:n.161-76G>C
ENST00000529870.1:n.788G>C
ENST00000530850.1:c.150-76G>C	ENSP00000437238.1:n.150-76G>C
ENST00000531005.5:n.581G>C
ENST00000531972.5:c.161-76G>C	ENSP00000435295.1:n.161-76G>C
ENST00000533347.5:c.161-30G>C	ENSP00000435823.1:n.161-30G>C
NM_016938.4:c.161-76G>C	NP_058634.4:n.161-76G>C
NR_037718.1:n.420-76G>C
NM_016938.5:c.161-76G>C MANE Select	NP_058634.4:n.161-76G>C
NR_037718.2:n.286-76G>C