Canonical Allele Identifier: CA381310673

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65871363-T-A
• MyVariant Identifiers: chr11:g.65638834T>A (hg19) ; chr11:g.65871363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871363T>A , CM000673.2:g.65871363T>A	GRCh38
NC_000011.9:g.65638834T>A , CM000673.1:g.65638834T>A	GRCh37
NC_000011.8:g.65395410T>A	NCBI36
NG_012304.2:g.6572A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.161A>T MANE Select	ENSP00000309953.6:p.Asp54Val
ENST00000307998.10:c.161A>T	ENSP00000309953.6:p.Asp54Val
ENST00000526624.5:c.161A>T	ENSP00000435419.1:p.Asp54Val
ENST00000527378.1:c.161A>T	ENSP00000435963.1:p.Asp54Val
ENST00000528176.5:c.161A>T	ENSP00000434151.1:p.Asp54Val
ENST00000530850.1:c.150A>T	ENSP00000437238.1:p.Gly50=
ENST00000531005.5:n.657A>T
ENST00000531972.5:c.161A>T	ENSP00000435295.1:p.Asp54Val
ENST00000533347.5:c.207A>T	ENSP00000435823.1:p.Arg69Ser
NM_016938.4:c.161A>T	NP_058634.4:p.Asp54Val
NR_037718.1:n.420A>T
NM_016938.5:c.161A>T MANE Select	NP_058634.4:p.Asp54Val
NR_037718.2:n.286A>T