Canonical Allele Identifier: CA6110512

Gene: EFEMP2

Linked Data

• dbSNP Id: rs770919025
• ExAC: 11:65635957 C / G
• gnomAD v2: 11-65635957-C-G
• gnomAD v4: 11-65868486-C-G
• MyVariant Identifiers: chr11:g.65635957C>G (hg19) ; chr11:g.65868486C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868486C>G , CM000673.2:g.65868486C>G	GRCh38
NC_000011.9:g.65635957C>G , CM000673.1:g.65635957C>G	GRCh37
NC_000011.8:g.65392533C>G	NCBI36
NG_012304.2:g.9449G>C
NG_053116.1:g.13425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+24G>C MANE Select	ENSP00000309953.6:n.847+24G>C
ENST00000307998.10:c.847+24G>C	ENSP00000309953.6:n.847+24G>C
ENST00000526628.5:n.1413+24G>C
ENST00000527969.1:n.1556G>C
ENST00000528176.5:c.847+24G>C	ENSP00000434151.1:n.847+24G>C
ENST00000528409.1:n.27G>C
ENST00000530806.5:c.-152+24G>C	ENSP00000436526.1:n.-152+24G>C
ENST00000531005.5:n.1841+24G>C
ENST00000531972.5:c.847+24G>C	ENSP00000435295.1:n.847+24G>C
ENST00000532084.5:n.273+24G>C
NM_016938.4:c.847+24G>C	NP_058634.4:n.847+24G>C
NR_037718.1:n.1106+24G>C
NM_016938.5:c.847+24G>C MANE Select	NP_058634.4:n.847+24G>C
NR_037718.2:n.972+24G>C