Canonical Allele Identifier: CA2839111898
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65871385G>A , CM000673.2:g.65871385G>A GRCh38
NC_000011.9:g.65638856G>A , CM000673.1:g.65638856G>A GRCh37
NC_000011.8:g.65395432G>A NCBI36
NG_012304.2:g.6550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.161-22C>T MANE Select ENSP00000309953.6:n.161-22C>T
ENST00000307998.10:c.161-22C>T ENSP00000309953.6:n.161-22C>T
ENST00000526624.5:c.161-22C>T ENSP00000435419.1:n.161-22C>T
ENST00000527378.1:c.161-22C>T ENSP00000435963.1:n.161-22C>T
ENST00000528176.5:c.161-22C>T ENSP00000434151.1:n.161-22C>T
ENST00000530850.1:c.150-22C>T ENSP00000437238.1:n.150-22C>T
ENST00000531005.5:n.635C>T
ENST00000531972.5:c.161-22C>T ENSP00000435295.1:n.161-22C>T
ENST00000533347.5:c.185C>T ENSP00000435823.1:p.Ala62Val
NM_016938.4:c.161-22C>T NP_058634.4:n.161-22C>T
NR_037718.1:n.420-22C>T
NM_016938.5:c.161-22C>T MANE Select NP_058634.4:n.161-22C>T
NR_037718.2:n.286-22C>T