Canonical Allele Identifier: CA938938825

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859903876
• gnomAD v3: 11-65868464-C-T
• gnomAD v4: 11-65868464-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868464C>T , CM000673.2:g.65868464C>T	GRCh38
NC_000011.9:g.65635935C>T , CM000673.1:g.65635935C>T	GRCh37
NC_000011.8:g.65392511C>T	NCBI36
NG_012304.2:g.9471G>A
NG_053116.1:g.13403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.848-43G>A MANE Select	ENSP00000309953.6:n.848-43G>A
ENST00000307998.10:c.848-43G>A	ENSP00000309953.6:n.848-43G>A
ENST00000526628.5:n.1414-43G>A
ENST00000528176.5:c.848-43G>A	ENSP00000434151.1:n.848-43G>A
ENST00000528409.1:n.49G>A
ENST00000530806.5:c.-151-43G>A	ENSP00000436526.1:n.-151-43G>A
ENST00000531005.5:n.1842-43G>A
ENST00000531972.5:c.848-43G>A	ENSP00000435295.1:n.848-43G>A
ENST00000532084.5:n.274-43G>A
NM_016938.4:c.848-43G>A	NP_058634.4:n.848-43G>A
NR_037718.1:n.1107-43G>A
NM_016938.5:c.848-43G>A MANE Select	NP_058634.4:n.848-43G>A
NR_037718.2:n.973-43G>A