Canonical Allele Identifier: CA224016828

Gene: EFEMP2

Linked Data

• dbSNP Id: rs200768579
• gnomAD v2: 11-65635726-G-T
• gnomAD v3: 11-65868255-G-T
• gnomAD v4: 11-65868255-G-T
• MyVariant Identifiers: chr11:g.65635726G>T (hg19) ; chr11:g.65868255G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868255G>T , CM000673.2:g.65868255G>T	GRCh38
NC_000011.9:g.65635726G>T , CM000673.1:g.65635726G>T	GRCh37
NC_000011.8:g.65392302G>T	NCBI36
NG_012304.2:g.9680C>A
NG_053116.1:g.13194G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.974+40C>A MANE Select	ENSP00000309953.6:n.974+40C>A
ENST00000307998.10:c.974+40C>A	ENSP00000309953.6:n.974+40C>A
ENST00000525392.1:n.135+40C>A
ENST00000526628.5:n.1540+40C>A
ENST00000528176.5:c.974+40C>A	ENSP00000434151.1:n.974+40C>A
ENST00000528409.1:n.207+51C>A
ENST00000530806.5:c.-25+40C>A	ENSP00000436526.1:n.-25+40C>A
ENST00000531005.5:n.1968+40C>A
ENST00000531645.5:c.122+40C>A	ENSP00000436521.1:n.122+40C>A
ENST00000531972.5:c.974+40C>A	ENSP00000435295.1:n.974+40C>A
ENST00000532084.5:n.400+40C>A
NM_016938.4:c.974+40C>A	NP_058634.4:n.974+40C>A
NR_037718.1:n.1233+40C>A
NM_016938.5:c.974+40C>A MANE Select	NP_058634.4:n.974+40C>A
NR_037718.2:n.1099+40C>A