Canonical Allele Identifier: CA399312887

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059857710
• gnomAD v4: 17-39727721-C-A
• MyVariant Identifiers: chr17:g.37883974C>A (hg19) ; chr17:g.39727721C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727721C>A , CM000679.2:g.39727721C>A	GRCh38
NC_000017.10:g.37883974C>A , CM000679.1:g.37883974C>A	GRCh37
NC_000017.9:g.35137500C>A	NCBI36
NG_007503.1:g.44582C>A , LRG_724:g.44582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3445C>A MANE Select	ENSP00000269571.4:p.Pro1149Thr
ENST00000269571.9:c.3445C>A	ENSP00000269571.4:p.Pro1149Thr
ENST00000406381.6:c.3355C>A	ENSP00000385185.2:p.Pro1119Thr
ENST00000445658.6:c.2617C>A	ENSP00000404047.2:p.Pro873Thr
ENST00000541774.5:c.3400C>A	ENSP00000446466.1:p.Pro1134Thr
ENST00000578373.5:c.*3235C>A	ENSP00000463427.1:n.*3235C>A
ENST00000584450.5:c.*24C>A	ENSP00000463714.1:n.*24C>A
ENST00000584601.5:c.3355C>A	ENSP00000462438.1:p.Pro1119Thr
NM_001005862.2:c.3355C>A , LRG_724t1:c.3355C>A	NP_001005862.1:p.Pro1119Thr
NM_001289936.1:c.3400C>A , LRG_724t4:c.3400C>A	NP_001276865.1:p.Pro1134Thr
NM_001289937.1:c.*24C>A	NP_001276866.1:n.*24C>A
NM_004448.3:c.3445C>A , LRG_724t2:c.3445C>A	NP_004439.2:p.Pro1149Thr
NR_110535.1:n.3769C>A
XM_024450641.1:c.3583C>A	XP_024306409.1:p.Pro1195Thr
XM_024450642.1:c.3538C>A	XP_024306410.1:p.Pro1180Thr
XM_024450643.1:c.3493C>A	XP_024306411.1:p.Pro1165Thr
NM_001005862.3:c.3355C>A	NP_001005862.1:p.Pro1119Thr
NM_001289936.2:c.3400C>A	NP_001276865.1:p.Pro1134Thr
NM_001289937.2:c.*24C>A	NP_001276866.1:n.*24C>A
NM_001382782.1:c.3355C>A	NP_001369711.1:p.Pro1119Thr
NM_001382783.1:c.3355C>A	NP_001369712.1:p.Pro1119Thr
NM_001382784.1:c.3562C>A	NP_001369713.1:p.Pro1188Thr
NM_001382785.1:c.3547C>A	NP_001369714.1:p.Pro1183Thr
NM_001382786.1:c.3526C>A	NP_001369715.1:p.Pro1176Thr
NM_001382787.1:c.3520C>A	NP_001369716.1:p.Pro1174Thr
NM_001382788.1:c.3475C>A	NP_001369717.1:p.Pro1159Thr
NM_001382789.1:c.3466C>A	NP_001369718.1:p.Pro1156Thr
NM_001382790.1:c.3442C>A	NP_001369719.1:p.Pro1148Thr
NM_001382791.1:c.3436C>A	NP_001369720.1:p.Pro1146Thr
NM_001382792.1:c.3409C>A	NP_001369721.1:p.Pro1137Thr
NM_001382793.1:c.3403C>A	NP_001369722.1:p.Pro1135Thr
NM_001382794.1:c.3403C>A	NP_001369723.1:p.Pro1135Thr
NM_001382795.1:c.3397C>A	NP_001369724.1:p.Pro1133Thr
NM_001382796.1:c.3358C>A	NP_001369725.1:p.Pro1120Thr
NM_001382797.1:c.3346C>A	NP_001369726.1:p.Pro1116Thr
NM_001382798.1:c.3289C>A	NP_001369727.1:p.Pro1097Thr
NM_001382799.1:c.3265C>A	NP_001369728.1:p.Pro1089Thr
NM_001382800.1:c.3259C>A	NP_001369729.1:p.Pro1087Thr
NM_001382801.1:c.3241C>A	NP_001369730.1:p.Pro1081Thr
NM_001382802.1:c.3187C>A	NP_001369731.1:p.Pro1063Thr
NM_001382803.1:c.*24C>A	NP_001369732.1:n.*24C>A
NM_001382804.1:c.2617C>A	NP_001369733.1:p.Pro873Thr
NM_001382805.1:c.2494C>A	NP_001369734.1:p.Pro832Thr
NM_001382806.1:c.2407C>A	NP_001369735.1:p.Pro803Thr
NM_004448.4:c.3445C>A MANE Select	NP_004439.2:p.Pro1149Thr
NR_110535.2:n.3683C>A