Canonical Allele Identifier: CA399312621

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059840708
• gnomAD v3: 17-39727484-A-G
• gnomAD v4: 17-39727484-A-G
• MyVariant Identifiers: chr17:g.37883737A>G (hg19) ; chr17:g.39727484A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727484A>G , CM000679.2:g.39727484A>G	GRCh38
NC_000017.10:g.37883737A>G , CM000679.1:g.37883737A>G	GRCh37
NC_000017.9:g.35137263A>G	NCBI36
NG_007503.1:g.44345A>G , LRG_724:g.44345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3349A>G MANE Select	ENSP00000269571.4:p.Thr1117Ala
ENST00000269571.9:c.3349A>G	ENSP00000269571.4:p.Thr1117Ala
ENST00000406381.6:c.3259A>G	ENSP00000385185.2:p.Thr1087Ala
ENST00000445658.6:c.2521A>G	ENSP00000404047.2:p.Thr841Ala
ENST00000541774.5:c.3304A>G	ENSP00000446466.1:p.Thr1102Ala
ENST00000578373.5:c.*3139A>G	ENSP00000463427.1:n.*3139A>G
ENST00000584450.5:c.3160-205A>G	ENSP00000463714.1:n.3160-205A>G
ENST00000584601.5:c.3259A>G	ENSP00000462438.1:p.Thr1087Ala
NM_001005862.2:c.3259A>G , LRG_724t1:c.3259A>G	NP_001005862.1:p.Thr1087Ala
NM_001289936.1:c.3304A>G , LRG_724t4:c.3304A>G	NP_001276865.1:p.Thr1102Ala
NM_001289937.1:c.3160-205A>G	NP_001276866.1:n.3160-205A>G
NM_004448.3:c.3349A>G , LRG_724t2:c.3349A>G	NP_004439.2:p.Thr1117Ala
NR_110535.1:n.3673A>G
XM_024450641.1:c.3487A>G	XP_024306409.1:p.Thr1163Ala
XM_024450642.1:c.3442A>G	XP_024306410.1:p.Thr1148Ala
XM_024450643.1:c.3397A>G	XP_024306411.1:p.Thr1133Ala
NM_001005862.3:c.3259A>G	NP_001005862.1:p.Thr1087Ala
NM_001289936.2:c.3304A>G	NP_001276865.1:p.Thr1102Ala
NM_001289937.2:c.3160-205A>G	NP_001276866.1:n.3160-205A>G
NM_001382782.1:c.3259A>G	NP_001369711.1:p.Thr1087Ala
NM_001382783.1:c.3259A>G	NP_001369712.1:p.Thr1087Ala
NM_001382784.1:c.3466A>G	NP_001369713.1:p.Thr1156Ala
NM_001382785.1:c.3451A>G	NP_001369714.1:p.Thr1151Ala
NM_001382786.1:c.3430A>G	NP_001369715.1:p.Thr1144Ala
NM_001382787.1:c.3424A>G	NP_001369716.1:p.Thr1142Ala
NM_001382788.1:c.3379A>G	NP_001369717.1:p.Thr1127Ala
NM_001382789.1:c.3370A>G	NP_001369718.1:p.Thr1124Ala
NM_001382790.1:c.3346A>G	NP_001369719.1:p.Thr1116Ala
NM_001382791.1:c.3340A>G	NP_001369720.1:p.Thr1114Ala
NM_001382792.1:c.3313A>G	NP_001369721.1:p.Thr1105Ala
NM_001382793.1:c.3307A>G	NP_001369722.1:p.Thr1103Ala
NM_001382794.1:c.3307A>G	NP_001369723.1:p.Thr1103Ala
NM_001382795.1:c.3301A>G	NP_001369724.1:p.Thr1101Ala
NM_001382796.1:c.3262A>G	NP_001369725.1:p.Thr1088Ala
NM_001382797.1:c.3250A>G	NP_001369726.1:p.Thr1084Ala
NM_001382798.1:c.3193A>G	NP_001369727.1:p.Thr1065Ala
NM_001382799.1:c.3169A>G	NP_001369728.1:p.Thr1057Ala
NM_001382800.1:c.3163A>G	NP_001369729.1:p.Thr1055Ala
NM_001382801.1:c.3145A>G	NP_001369730.1:p.Thr1049Ala
NM_001382802.1:c.3091A>G	NP_001369731.1:p.Thr1031Ala
NM_001382803.1:c.3118-205A>G	NP_001369732.1:n.3118-205A>G
NM_001382804.1:c.2521A>G	NP_001369733.1:p.Thr841Ala
NM_001382805.1:c.2398A>G	NP_001369734.1:p.Thr800Ala
NM_001382806.1:c.2311A>G	NP_001369735.1:p.Thr771Ala
NM_004448.4:c.3349A>G MANE Select	NP_004439.2:p.Thr1117Ala
NR_110535.2:n.3587A>G