Canonical Allele Identifier: CA377030522
Gene: EGR2 HGNC NCBI

Linked Data

dbSNP Id: rs1164893306

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62814186A>G , CM000672.2:g.62814186A>G GRCh38
NC_000010.10:g.64573946A>G , CM000672.1:g.64573946A>G GRCh37
NC_000010.9:g.64243952A>G NCBI36
NG_008936.2:g.110715T>C , LRG_239:g.110715T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.302T>C ENSP00000387634.1:p.Val101Ala
ENST00000439032.6:c.992T>C ENSP00000509775.1:n.992T>C
ENST00000637191.2:c.452T>C ENSP00000490154.2:p.Val151Ala
ENST00000690143.1:c.*384T>C ENSP00000510306.1:n.*384T>C
ENST00000691610.1:c.491T>C ENSP00000509830.1:p.Val164Ala
ENST00000242480.4:c.452T>C MANE Select ENSP00000242480.3:p.Val151Ala
ENST00000411732.3:c.302T>C ENSP00000387634.1:p.Val101Ala
ENST00000639815.1:n.109-1224T>C
ENST00000242480.3:c.452T>C ENSP00000242480.3:p.Val151Ala
ENST00000411732.2:c.302T>C ENSP00000387634.1:p.Val101Ala
ENST00000439032.4:c.452T>C ENSP00000402040.1:p.Val151Ala
NM_000399.3:c.452T>C , LRG_239t1:c.452T>C NP_000390.2:p.Val151Ala
NM_001136177.1:c.452T>C NP_001129649.1:p.Val151Ala
NM_001136178.1:c.452T>C NP_001129650.1:p.Val151Ala
NM_001136179.1:c.302T>C NP_001129651.1:p.Val101Ala
XM_011539427.1:c.491T>C XP_011537729.1:p.Val164Ala
XM_011539428.1:c.302T>C XP_011537730.1:p.Val101Ala
XM_011539429.1:c.302T>C XP_011537731.1:p.Val101Ala
NM_000399.4:c.452T>C NP_000390.2:p.Val151Ala
NM_001136177.2:c.452T>C NP_001129649.1:p.Val151Ala
NM_001136179.2:c.302T>C NP_001129651.1:p.Val101Ala
NM_001321037.1:c.302T>C NP_001307966.1:p.Val101Ala
NM_000399.5:c.452T>C MANE Select NP_000390.2:p.Val151Ala
NM_001136177.3:c.452T>C NP_001129649.1:p.Val151Ala
NM_001136179.3:c.302T>C NP_001129651.1:p.Val101Ala
NM_001321037.2:c.302T>C NP_001307966.1:p.Val101Ala
NM_001136178.2:c.452T>C NP_001129650.1:p.Val151Ala