Canonical Allele Identifier: CA377030530
Gene: EGR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62814187C>G , CM000672.2:g.62814187C>G GRCh38
NC_000010.10:g.64573947C>G , CM000672.1:g.64573947C>G GRCh37
NC_000010.9:g.64243953C>G NCBI36
NG_008936.2:g.110714G>C , LRG_239:g.110714G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.301G>C ENSP00000387634.1:p.Val101Leu
ENST00000439032.6:c.991G>C ENSP00000509775.1:n.991G>C
ENST00000637191.2:c.451G>C ENSP00000490154.2:p.Val151Leu
ENST00000690143.1:c.*383G>C ENSP00000510306.1:n.*383G>C
ENST00000691610.1:c.490G>C ENSP00000509830.1:p.Val164Leu
ENST00000242480.4:c.451G>C MANE Select ENSP00000242480.3:p.Val151Leu
ENST00000411732.3:c.301G>C ENSP00000387634.1:p.Val101Leu
ENST00000639815.1:n.109-1225G>C
ENST00000242480.3:c.451G>C ENSP00000242480.3:p.Val151Leu
ENST00000411732.2:c.301G>C ENSP00000387634.1:p.Val101Leu
ENST00000439032.4:c.451G>C ENSP00000402040.1:p.Val151Leu
NM_000399.3:c.451G>C , LRG_239t1:c.451G>C NP_000390.2:p.Val151Leu
NM_001136177.1:c.451G>C NP_001129649.1:p.Val151Leu
NM_001136178.1:c.451G>C NP_001129650.1:p.Val151Leu
NM_001136179.1:c.301G>C NP_001129651.1:p.Val101Leu
XM_011539427.1:c.490G>C XP_011537729.1:p.Val164Leu
XM_011539428.1:c.301G>C XP_011537730.1:p.Val101Leu
XM_011539429.1:c.301G>C XP_011537731.1:p.Val101Leu
NM_000399.4:c.451G>C NP_000390.2:p.Val151Leu
NM_001136177.2:c.451G>C NP_001129649.1:p.Val151Leu
NM_001136179.2:c.301G>C NP_001129651.1:p.Val101Leu
NM_001321037.1:c.301G>C NP_001307966.1:p.Val101Leu
NM_000399.5:c.451G>C MANE Select NP_000390.2:p.Val151Leu
NM_001136177.3:c.451G>C NP_001129649.1:p.Val151Leu
NM_001136179.3:c.301G>C NP_001129651.1:p.Val101Leu
NM_001321037.2:c.301G>C NP_001307966.1:p.Val101Leu
NM_001136178.2:c.451G>C NP_001129650.1:p.Val151Leu