Canonical Allele Identifier: CA381362095

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638028T>C (hg19) ; chr11:g.65870557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870557T>C , CM000673.2:g.65870557T>C	GRCh38
NC_000011.9:g.65638028T>C , CM000673.1:g.65638028T>C	GRCh37
NC_000011.8:g.65394604T>C	NCBI36
NG_012304.2:g.7378A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.469A>G MANE Select	ENSP00000309953.6:p.Lys157Glu
ENST00000307998.10:c.469A>G	ENSP00000309953.6:p.Lys157Glu
ENST00000526624.5:c.469A>G	ENSP00000435419.1:p.Lys157Glu
ENST00000527378.1:c.469A>G	ENSP00000435963.1:p.Lys157Glu
ENST00000527969.1:n.148A>G
ENST00000528176.5:c.469A>G	ENSP00000434151.1:p.Lys157Glu
ENST00000530850.1:c.*281A>G	ENSP00000437238.1:n.*281A>G
ENST00000531005.5:n.1463A>G
ENST00000531972.5:c.469A>G	ENSP00000435295.1:p.Lys157Glu
ENST00000533347.5:c.*281A>G	ENSP00000435823.1:n.*281A>G
NM_016938.4:c.469A>G	NP_058634.4:p.Lys157Glu
NR_037718.1:n.728A>G
NM_016938.5:c.469A>G MANE Select	NP_058634.4:p.Lys157Glu
NR_037718.2:n.594A>G