Canonical Allele Identifier: CA475316747

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868532-C-T
• MyVariant Identifiers: chr11:g.65636003C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868532C>T , CM000673.2:g.65868532C>T	GRCh38
NC_000011.9:g.65636003C>T , CM000673.1:g.65636003C>T	GRCh37
NC_000011.8:g.65392579C>T	NCBI36
NG_012304.2:g.9403G>A
NG_053116.1:g.13471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.825G>A MANE Select	ENSP00000309953.6:p.Leu275=
ENST00000307998.10:c.825G>A	ENSP00000309953.6:p.Leu275=
ENST00000526628.5:n.1391G>A
ENST00000527969.1:n.1510G>A
ENST00000528176.5:c.825G>A	ENSP00000434151.1:p.Leu275=
ENST00000530806.5:c.-174G>A	ENSP00000436526.1:n.-174G>A
ENST00000531005.5:n.1819G>A
ENST00000531972.5:c.825G>A	ENSP00000435295.1:p.Leu275=
ENST00000532084.5:n.251G>A
NM_016938.4:c.825G>A	NP_058634.4:p.Leu275=
NR_037718.1:n.1084G>A
NM_016938.5:c.825G>A MANE Select	NP_058634.4:p.Leu275=
NR_037718.2:n.950G>A