Canonical Allele Identifier: CA475316645

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868366-G-T
• MyVariant Identifiers: chr11:g.65635837G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868366G>T , CM000673.2:g.65868366G>T	GRCh38
NC_000011.9:g.65635837G>T , CM000673.1:g.65635837G>T	GRCh37
NC_000011.8:g.65392413G>T	NCBI36
NG_012304.2:g.9569C>A
NG_053116.1:g.13305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.903C>A MANE Select	ENSP00000309953.6:p.Val301=
ENST00000307998.10:c.903C>A	ENSP00000309953.6:p.Val301=
ENST00000525392.1:n.64C>A
ENST00000526628.5:n.1469C>A
ENST00000528176.5:c.903C>A	ENSP00000434151.1:p.Val301=
ENST00000528409.1:n.147C>A
ENST00000530806.5:c.-96C>A	ENSP00000436526.1:n.-96C>A
ENST00000531005.5:n.1897C>A
ENST00000531645.5:c.51C>A	ENSP00000436521.1:p.Val17=
ENST00000531972.5:c.903C>A	ENSP00000435295.1:p.Val301=
ENST00000532084.5:n.329C>A
NM_016938.4:c.903C>A	NP_058634.4:p.Val301=
NR_037718.1:n.1162C>A
NM_016938.5:c.903C>A MANE Select	NP_058634.4:p.Val301=
NR_037718.2:n.1028C>A