Canonical Allele Identifier: CA381362133
Gene: EFEMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65870561G>T , CM000673.2:g.65870561G>T GRCh38
NC_000011.9:g.65638032G>T , CM000673.1:g.65638032G>T GRCh37
NC_000011.8:g.65394608G>T NCBI36
NG_012304.2:g.7374C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.465C>A MANE Select ENSP00000309953.6:p.Tyr155Ter
ENST00000307998.10:c.465C>A ENSP00000309953.6:p.Tyr155Ter
ENST00000526624.5:c.465C>A ENSP00000435419.1:p.Tyr155Ter
ENST00000527378.1:c.465C>A ENSP00000435963.1:p.Tyr155Ter
ENST00000527969.1:n.144C>A
ENST00000528176.5:c.465C>A ENSP00000434151.1:p.Tyr155Ter
ENST00000530850.1:c.*277C>A ENSP00000437238.1:n.*277C>A
ENST00000531005.5:n.1459C>A
ENST00000531972.5:c.465C>A ENSP00000435295.1:p.Tyr155Ter
ENST00000533347.5:c.*277C>A ENSP00000435823.1:n.*277C>A
NM_016938.4:c.465C>A NP_058634.4:p.Tyr155Ter
NR_037718.1:n.724C>A
NM_016938.5:c.465C>A MANE Select NP_058634.4:p.Tyr155Ter
NR_037718.2:n.590C>A