Canonical Allele Identifier: CA377029120
Gene: EGR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813926G>C , CM000672.2:g.62813926G>C GRCh38
NC_000010.10:g.64573686G>C , CM000672.1:g.64573686G>C GRCh37
NC_000010.9:g.64243692G>C NCBI36
NG_008936.2:g.110975C>G , LRG_239:g.110975C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.562C>G ENSP00000387634.1:p.Leu188Val
ENST00000439032.6:c.1252C>G ENSP00000509775.1:n.1252C>G
ENST00000637191.2:c.712C>G ENSP00000490154.2:p.Leu238Val
ENST00000690143.1:c.*644C>G ENSP00000510306.1:n.*644C>G
ENST00000691610.1:c.751C>G ENSP00000509830.1:p.Leu251Val
ENST00000242480.4:c.712C>G MANE Select ENSP00000242480.3:p.Leu238Val
ENST00000411732.3:c.562C>G ENSP00000387634.1:p.Leu188Val
ENST00000639815.1:n.109-964C>G
ENST00000242480.3:c.712C>G ENSP00000242480.3:p.Leu238Val
ENST00000411732.2:c.562C>G ENSP00000387634.1:p.Leu188Val
ENST00000439032.4:c.712C>G ENSP00000402040.1:p.Leu238Val
NM_000399.3:c.712C>G , LRG_239t1:c.712C>G NP_000390.2:p.Leu238Val
NM_001136177.1:c.712C>G NP_001129649.1:p.Leu238Val
NM_001136178.1:c.712C>G NP_001129650.1:p.Leu238Val
NM_001136179.1:c.562C>G NP_001129651.1:p.Leu188Val
XM_011539427.1:c.751C>G XP_011537729.1:p.Leu251Val
XM_011539428.1:c.562C>G XP_011537730.1:p.Leu188Val
XM_011539429.1:c.562C>G XP_011537731.1:p.Leu188Val
NM_000399.4:c.712C>G NP_000390.2:p.Leu238Val
NM_001136177.2:c.712C>G NP_001129649.1:p.Leu238Val
NM_001136179.2:c.562C>G NP_001129651.1:p.Leu188Val
NM_001321037.1:c.562C>G NP_001307966.1:p.Leu188Val
NM_000399.5:c.712C>G MANE Select NP_000390.2:p.Leu238Val
NM_001136177.3:c.712C>G NP_001129649.1:p.Leu238Val
NM_001136179.3:c.562C>G NP_001129651.1:p.Leu188Val
NM_001321037.2:c.562C>G NP_001307966.1:p.Leu188Val
NM_001136178.2:c.712C>G NP_001129650.1:p.Leu238Val