Canonical Allele Identifier: CA381310664

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638833A>C (hg19) ; chr11:g.65871362A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871362A>C , CM000673.2:g.65871362A>C	GRCh38
NC_000011.9:g.65638833A>C , CM000673.1:g.65638833A>C	GRCh37
NC_000011.8:g.65395409A>C	NCBI36
NG_012304.2:g.6573T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.162T>G MANE Select	ENSP00000309953.6:p.Asp54Glu
ENST00000307998.10:c.162T>G	ENSP00000309953.6:p.Asp54Glu
ENST00000526624.5:c.162T>G	ENSP00000435419.1:p.Asp54Glu
ENST00000527378.1:c.162T>G	ENSP00000435963.1:p.Asp54Glu
ENST00000528176.5:c.162T>G	ENSP00000434151.1:p.Asp54Glu
ENST00000530850.1:c.151T>G	ENSP00000437238.1:p.Cys51Gly
ENST00000531005.5:n.658T>G
ENST00000531972.5:c.162T>G	ENSP00000435295.1:p.Asp54Glu
ENST00000533347.5:c.208T>G	ENSP00000435823.1:p.Cys70Gly
NM_016938.4:c.162T>G	NP_058634.4:p.Asp54Glu
NR_037718.1:n.421T>G
NM_016938.5:c.162T>G MANE Select	NP_058634.4:p.Asp54Glu
NR_037718.2:n.287T>G