Canonical Allele Identifier: CA381357690

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1455911708
• gnomAD v2: 11-65636088-C-T
• gnomAD v4: 11-65868617-C-T
• MyVariant Identifiers: chr11:g.65636088C>T (hg19) ; chr11:g.65868617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868617C>T , CM000673.2:g.65868617C>T	GRCh38
NC_000011.9:g.65636088C>T , CM000673.1:g.65636088C>T	GRCh37
NC_000011.8:g.65392664C>T	NCBI36
NG_012304.2:g.9318G>A
NG_053116.1:g.13556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.740G>A MANE Select	ENSP00000309953.6:p.Cys247Tyr
ENST00000307998.10:c.740G>A	ENSP00000309953.6:p.Cys247Tyr
ENST00000526628.5:n.1306G>A
ENST00000527969.1:n.1425G>A
ENST00000528176.5:c.740G>A	ENSP00000434151.1:p.Cys247Tyr
ENST00000531005.5:n.1734G>A
ENST00000531972.5:c.740G>A	ENSP00000435295.1:p.Cys247Tyr
ENST00000532084.5:n.166G>A
NM_016938.4:c.740G>A	NP_058634.4:p.Cys247Tyr
NR_037718.1:n.999G>A
NM_016938.5:c.740G>A MANE Select	NP_058634.4:p.Cys247Tyr
NR_037718.2:n.865G>A