Canonical Allele Identifier: CA381310302

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638775G>C (hg19) ; chr11:g.65871304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871304G>C , CM000673.2:g.65871304G>C	GRCh38
NC_000011.9:g.65638775G>C , CM000673.1:g.65638775G>C	GRCh37
NC_000011.8:g.65395351G>C	NCBI36
NG_012304.2:g.6631C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.220C>G MANE Select	ENSP00000309953.6:p.His74Asp
ENST00000307998.10:c.220C>G	ENSP00000309953.6:p.His74Asp
ENST00000526624.5:c.220C>G	ENSP00000435419.1:p.His74Asp
ENST00000527378.1:c.220C>G	ENSP00000435963.1:p.His74Asp
ENST00000528176.5:c.220C>G	ENSP00000434151.1:p.His74Asp
ENST00000530850.1:c.*32C>G	ENSP00000437238.1:n.*32C>G
ENST00000531005.5:n.716C>G
ENST00000531972.5:c.220C>G	ENSP00000435295.1:p.His74Asp
ENST00000533347.5:c.*32C>G	ENSP00000435823.1:n.*32C>G
NM_016938.4:c.220C>G	NP_058634.4:p.His74Asp
NR_037718.1:n.479C>G
NM_016938.5:c.220C>G MANE Select	NP_058634.4:p.His74Asp
NR_037718.2:n.345C>G