Canonical Allele Identifier: CA399313146
Gene: ERBB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727776T>A , CM000679.2:g.39727776T>A GRCh38
NC_000017.10:g.37884029T>A , CM000679.1:g.37884029T>A GRCh37
NC_000017.9:g.35137555T>A NCBI36
NG_007503.1:g.44637T>A , LRG_724:g.44637T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3500T>A MANE Select ENSP00000269571.4:p.Leu1167Gln
ENST00000269571.9:c.3500T>A ENSP00000269571.4:p.Leu1167Gln
ENST00000406381.6:c.3410T>A ENSP00000385185.2:p.Leu1137Gln
ENST00000445658.6:c.2672T>A ENSP00000404047.2:p.Leu891Gln
ENST00000541774.5:c.3455T>A ENSP00000446466.1:p.Leu1152Gln
ENST00000578373.5:c.*3290T>A ENSP00000463427.1:n.*3290T>A
ENST00000584450.5:c.*79T>A ENSP00000463714.1:n.*79T>A
ENST00000584601.5:c.3410T>A ENSP00000462438.1:p.Leu1137Gln
NM_001005862.2:c.3410T>A , LRG_724t1:c.3410T>A NP_001005862.1:p.Leu1137Gln
NM_001289936.1:c.3455T>A , LRG_724t4:c.3455T>A NP_001276865.1:p.Leu1152Gln
NM_001289937.1:c.*79T>A NP_001276866.1:n.*79T>A
NM_004448.3:c.3500T>A , LRG_724t2:c.3500T>A NP_004439.2:p.Leu1167Gln
NR_110535.1:n.3824T>A
XM_024450641.1:c.3638T>A XP_024306409.1:p.Leu1213Gln
XM_024450642.1:c.3593T>A XP_024306410.1:p.Leu1198Gln
XM_024450643.1:c.3548T>A XP_024306411.1:p.Leu1183Gln
NM_001005862.3:c.3410T>A NP_001005862.1:p.Leu1137Gln
NM_001289936.2:c.3455T>A NP_001276865.1:p.Leu1152Gln
NM_001289937.2:c.*79T>A NP_001276866.1:n.*79T>A
NM_001382782.1:c.3410T>A NP_001369711.1:p.Leu1137Gln
NM_001382783.1:c.3410T>A NP_001369712.1:p.Leu1137Gln
NM_001382784.1:c.3617T>A NP_001369713.1:p.Leu1206Gln
NM_001382785.1:c.3602T>A NP_001369714.1:p.Leu1201Gln
NM_001382786.1:c.3581T>A NP_001369715.1:p.Leu1194Gln
NM_001382787.1:c.3575T>A NP_001369716.1:p.Leu1192Gln
NM_001382788.1:c.3530T>A NP_001369717.1:p.Leu1177Gln
NM_001382789.1:c.3521T>A NP_001369718.1:p.Leu1174Gln
NM_001382790.1:c.3497T>A NP_001369719.1:p.Leu1166Gln
NM_001382791.1:c.3491T>A NP_001369720.1:p.Leu1164Gln
NM_001382792.1:c.3464T>A NP_001369721.1:p.Leu1155Gln
NM_001382793.1:c.3458T>A NP_001369722.1:p.Leu1153Gln
NM_001382794.1:c.3458T>A NP_001369723.1:p.Leu1153Gln
NM_001382795.1:c.3452T>A NP_001369724.1:p.Leu1151Gln
NM_001382796.1:c.3413T>A NP_001369725.1:p.Leu1138Gln
NM_001382797.1:c.3401T>A NP_001369726.1:p.Leu1134Gln
NM_001382798.1:c.3344T>A NP_001369727.1:p.Leu1115Gln
NM_001382799.1:c.3320T>A NP_001369728.1:p.Leu1107Gln
NM_001382800.1:c.3314T>A NP_001369729.1:p.Leu1105Gln
NM_001382801.1:c.3296T>A NP_001369730.1:p.Leu1099Gln
NM_001382802.1:c.3242T>A NP_001369731.1:p.Leu1081Gln
NM_001382803.1:c.*79T>A NP_001369732.1:n.*79T>A
NM_001382804.1:c.2672T>A NP_001369733.1:p.Leu891Gln
NM_001382805.1:c.2549T>A NP_001369734.1:p.Leu850Gln
NM_001382806.1:c.2462T>A NP_001369735.1:p.Leu821Gln
NM_004448.4:c.3500T>A MANE Select NP_004439.2:p.Leu1167Gln
NR_110535.2:n.3738T>A