Canonical Allele Identifier: CA399312738

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143257405
• gnomAD v4: 17-39727515-A-G
• MyVariant Identifiers: chr17:g.37883768A>G (hg19) ; chr17:g.39727515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727515A>G , CM000679.2:g.39727515A>G	GRCh38
NC_000017.10:g.37883768A>G , CM000679.1:g.37883768A>G	GRCh37
NC_000017.9:g.35137294A>G	NCBI36
NG_007503.1:g.44376A>G , LRG_724:g.44376A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3380A>G MANE Select	ENSP00000269571.4:p.Tyr1127Cys
ENST00000269571.9:c.3380A>G	ENSP00000269571.4:p.Tyr1127Cys
ENST00000406381.6:c.3290A>G	ENSP00000385185.2:p.Tyr1097Cys
ENST00000445658.6:c.2552A>G	ENSP00000404047.2:p.Tyr851Cys
ENST00000541774.5:c.3335A>G	ENSP00000446466.1:p.Tyr1112Cys
ENST00000578373.5:c.*3170A>G	ENSP00000463427.1:n.*3170A>G
ENST00000584450.5:c.3160-174A>G	ENSP00000463714.1:n.3160-174A>G
ENST00000584601.5:c.3290A>G	ENSP00000462438.1:p.Tyr1097Cys
NM_001005862.2:c.3290A>G , LRG_724t1:c.3290A>G	NP_001005862.1:p.Tyr1097Cys
NM_001289936.1:c.3335A>G , LRG_724t4:c.3335A>G	NP_001276865.1:p.Tyr1112Cys
NM_001289937.1:c.3160-174A>G	NP_001276866.1:n.3160-174A>G
NM_004448.3:c.3380A>G , LRG_724t2:c.3380A>G	NP_004439.2:p.Tyr1127Cys
NR_110535.1:n.3704A>G
XM_024450641.1:c.3518A>G	XP_024306409.1:p.Tyr1173Cys
XM_024450642.1:c.3473A>G	XP_024306410.1:p.Tyr1158Cys
XM_024450643.1:c.3428A>G	XP_024306411.1:p.Tyr1143Cys
NM_001005862.3:c.3290A>G	NP_001005862.1:p.Tyr1097Cys
NM_001289936.2:c.3335A>G	NP_001276865.1:p.Tyr1112Cys
NM_001289937.2:c.3160-174A>G	NP_001276866.1:n.3160-174A>G
NM_001382782.1:c.3290A>G	NP_001369711.1:p.Tyr1097Cys
NM_001382783.1:c.3290A>G	NP_001369712.1:p.Tyr1097Cys
NM_001382784.1:c.3497A>G	NP_001369713.1:p.Tyr1166Cys
NM_001382785.1:c.3482A>G	NP_001369714.1:p.Tyr1161Cys
NM_001382786.1:c.3461A>G	NP_001369715.1:p.Tyr1154Cys
NM_001382787.1:c.3455A>G	NP_001369716.1:p.Tyr1152Cys
NM_001382788.1:c.3410A>G	NP_001369717.1:p.Tyr1137Cys
NM_001382789.1:c.3401A>G	NP_001369718.1:p.Tyr1134Cys
NM_001382790.1:c.3377A>G	NP_001369719.1:p.Tyr1126Cys
NM_001382791.1:c.3371A>G	NP_001369720.1:p.Tyr1124Cys
NM_001382792.1:c.3344A>G	NP_001369721.1:p.Tyr1115Cys
NM_001382793.1:c.3338A>G	NP_001369722.1:p.Tyr1113Cys
NM_001382794.1:c.3338A>G	NP_001369723.1:p.Tyr1113Cys
NM_001382795.1:c.3332A>G	NP_001369724.1:p.Tyr1111Cys
NM_001382796.1:c.3293A>G	NP_001369725.1:p.Tyr1098Cys
NM_001382797.1:c.3281A>G	NP_001369726.1:p.Tyr1094Cys
NM_001382798.1:c.3224A>G	NP_001369727.1:p.Tyr1075Cys
NM_001382799.1:c.3200A>G	NP_001369728.1:p.Tyr1067Cys
NM_001382800.1:c.3194A>G	NP_001369729.1:p.Tyr1065Cys
NM_001382801.1:c.3176A>G	NP_001369730.1:p.Tyr1059Cys
NM_001382802.1:c.3122A>G	NP_001369731.1:p.Tyr1041Cys
NM_001382803.1:c.3118-174A>G	NP_001369732.1:n.3118-174A>G
NM_001382804.1:c.2552A>G	NP_001369733.1:p.Tyr851Cys
NM_001382805.1:c.2429A>G	NP_001369734.1:p.Tyr810Cys
NM_001382806.1:c.2342A>G	NP_001369735.1:p.Tyr781Cys
NM_004448.4:c.3380A>G MANE Select	NP_004439.2:p.Tyr1127Cys
NR_110535.2:n.3618A>G