Canonical Allele Identifier: CA381362004

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638024A>C (hg19) ; chr11:g.65870553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870553A>C , CM000673.2:g.65870553A>C	GRCh38
NC_000011.9:g.65638024A>C , CM000673.1:g.65638024A>C	GRCh37
NC_000011.8:g.65394600A>C	NCBI36
NG_012304.2:g.7382T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.473T>G MANE Select	ENSP00000309953.6:p.Ile158Ser
ENST00000307998.10:c.473T>G	ENSP00000309953.6:p.Ile158Ser
ENST00000526624.5:c.473T>G	ENSP00000435419.1:p.Ile158Ser
ENST00000527378.1:c.473T>G	ENSP00000435963.1:p.Ile158Ser
ENST00000527969.1:n.152T>G
ENST00000528176.5:c.473T>G	ENSP00000434151.1:p.Ile158Ser
ENST00000530850.1:c.*285T>G	ENSP00000437238.1:n.*285T>G
ENST00000531005.5:n.1467T>G
ENST00000531972.5:c.473T>G	ENSP00000435295.1:p.Ile158Ser
ENST00000533347.5:c.*285T>G	ENSP00000435823.1:n.*285T>G
NM_016938.4:c.473T>G	NP_058634.4:p.Ile158Ser
NR_037718.1:n.732T>G
NM_016938.5:c.473T>G MANE Select	NP_058634.4:p.Ile158Ser
NR_037718.2:n.598T>G