Canonical Allele Identifier: CA381362082

Gene: EFEMP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.469A>T MANE Select	ENSP00000309953.6:p.Lys157Ter
ENST00000307998.10:c.469A>T	ENSP00000309953.6:p.Lys157Ter
ENST00000526624.5:c.469A>T	ENSP00000435419.1:p.Lys157Ter
ENST00000527378.1:c.469A>T	ENSP00000435963.1:p.Lys157Ter
ENST00000527969.1:n.148A>T
ENST00000528176.5:c.469A>T	ENSP00000434151.1:p.Lys157Ter
ENST00000530850.1:c.*281A>T	ENSP00000437238.1:n.*281A>T
ENST00000531005.5:n.1463A>T
ENST00000531972.5:c.469A>T	ENSP00000435295.1:p.Lys157Ter
ENST00000533347.5:c.*281A>T	ENSP00000435823.1:n.*281A>T
NM_016938.4:c.469A>T	NP_058634.4:p.Lys157Ter
NR_037718.1:n.728A>T
NM_016938.5:c.469A>T MANE Select	NP_058634.4:p.Lys157Ter
NR_037718.2:n.594A>T