Canonical Allele Identifier: CA600229774

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1167510720
• gnomAD v2: 11-65635974-C-A
• gnomAD v4: 11-65868503-C-A
• MyVariant Identifiers: chr11:g.65635974C>A (hg19) ; chr11:g.65868503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868503C>A , CM000673.2:g.65868503C>A	GRCh38
NC_000011.9:g.65635974C>A , CM000673.1:g.65635974C>A	GRCh37
NC_000011.8:g.65392550C>A	NCBI36
NG_012304.2:g.9432G>T
NG_053116.1:g.13442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+7G>T MANE Select	ENSP00000309953.6:n.847+7G>T
ENST00000307998.10:c.847+7G>T	ENSP00000309953.6:n.847+7G>T
ENST00000526628.5:n.1413+7G>T
ENST00000527969.1:n.1539G>T
ENST00000528176.5:c.847+7G>T	ENSP00000434151.1:n.847+7G>T
ENST00000528409.1:n.10G>T
ENST00000530806.5:c.-152+7G>T	ENSP00000436526.1:n.-152+7G>T
ENST00000531005.5:n.1841+7G>T
ENST00000531972.5:c.847+7G>T	ENSP00000435295.1:n.847+7G>T
ENST00000532084.5:n.273+7G>T
NM_016938.4:c.847+7G>T	NP_058634.4:n.847+7G>T
NR_037718.1:n.1106+7G>T
NM_016938.5:c.847+7G>T MANE Select	NP_058634.4:n.847+7G>T
NR_037718.2:n.972+7G>T