Canonical Allele Identifier: CA399310923
Gene: ERBB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3090061
ClinVar RCV Id: RCV004380480
dbSNP Id: rs759923732

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727443C>G , CM000679.2:g.39727443C>G GRCh38
NC_000017.10:g.37883696C>G , CM000679.1:g.37883696C>G GRCh37
NC_000017.9:g.35137222C>G NCBI36
NG_007503.1:g.44304C>G , LRG_724:g.44304C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3308C>G MANE Select ENSP00000269571.4:p.Thr1103Arg
ENST00000269571.9:c.3308C>G ENSP00000269571.4:p.Thr1103Arg
ENST00000406381.6:c.3218C>G ENSP00000385185.2:p.Thr1073Arg
ENST00000445658.6:c.2480C>G ENSP00000404047.2:p.Thr827Arg
ENST00000541774.5:c.3263C>G ENSP00000446466.1:p.Thr1088Arg
ENST00000578373.5:c.*3098C>G ENSP00000463427.1:n.*3098C>G
ENST00000584450.5:c.3160-246C>G ENSP00000463714.1:n.3160-246C>G
ENST00000584601.5:c.3218C>G ENSP00000462438.1:p.Thr1073Arg
NM_001005862.2:c.3218C>G , LRG_724t1:c.3218C>G NP_001005862.1:p.Thr1073Arg
NM_001289936.1:c.3263C>G , LRG_724t4:c.3263C>G NP_001276865.1:p.Thr1088Arg
NM_001289937.1:c.3160-246C>G NP_001276866.1:n.3160-246C>G
NM_004448.3:c.3308C>G , LRG_724t2:c.3308C>G NP_004439.2:p.Thr1103Arg
NR_110535.1:n.3632C>G
XM_024450641.1:c.3446C>G XP_024306409.1:p.Thr1149Arg
XM_024450642.1:c.3401C>G XP_024306410.1:p.Thr1134Arg
XM_024450643.1:c.3356C>G XP_024306411.1:p.Thr1119Arg
NM_001005862.3:c.3218C>G NP_001005862.1:p.Thr1073Arg
NM_001289936.2:c.3263C>G NP_001276865.1:p.Thr1088Arg
NM_001289937.2:c.3160-246C>G NP_001276866.1:n.3160-246C>G
NM_001382782.1:c.3218C>G NP_001369711.1:p.Thr1073Arg
NM_001382783.1:c.3218C>G NP_001369712.1:p.Thr1073Arg
NM_001382784.1:c.3425C>G NP_001369713.1:p.Thr1142Arg
NM_001382785.1:c.3410C>G NP_001369714.1:p.Thr1137Arg
NM_001382786.1:c.3389C>G NP_001369715.1:p.Thr1130Arg
NM_001382787.1:c.3383C>G NP_001369716.1:p.Thr1128Arg
NM_001382788.1:c.3338C>G NP_001369717.1:p.Thr1113Arg
NM_001382789.1:c.3329C>G NP_001369718.1:p.Thr1110Arg
NM_001382790.1:c.3305C>G NP_001369719.1:p.Thr1102Arg
NM_001382791.1:c.3299C>G NP_001369720.1:p.Thr1100Arg
NM_001382792.1:c.3272C>G NP_001369721.1:p.Thr1091Arg
NM_001382793.1:c.3266C>G NP_001369722.1:p.Thr1089Arg
NM_001382794.1:c.3266C>G NP_001369723.1:p.Thr1089Arg
NM_001382795.1:c.3260C>G NP_001369724.1:p.Thr1087Arg
NM_001382796.1:c.3221C>G NP_001369725.1:p.Thr1074Arg
NM_001382797.1:c.3209C>G NP_001369726.1:p.Thr1070Arg
NM_001382798.1:c.3152C>G NP_001369727.1:p.Thr1051Arg
NM_001382799.1:c.3128C>G NP_001369728.1:p.Thr1043Arg
NM_001382800.1:c.3122C>G NP_001369729.1:p.Thr1041Arg
NM_001382801.1:c.3104C>G NP_001369730.1:p.Thr1035Arg
NM_001382802.1:c.3050C>G NP_001369731.1:p.Thr1017Arg
NM_001382803.1:c.3118-246C>G NP_001369732.1:n.3118-246C>G
NM_001382804.1:c.2480C>G NP_001369733.1:p.Thr827Arg
NM_001382805.1:c.2357C>G NP_001369734.1:p.Thr786Arg
NM_001382806.1:c.2270C>G NP_001369735.1:p.Thr757Arg
NM_004448.4:c.3308C>G MANE Select NP_004439.2:p.Thr1103Arg
NR_110535.2:n.3546C>G