Canonical Allele Identifier: CA399312602

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727479-A-C
• MyVariant Identifiers: chr17:g.37883732A>C (hg19) ; chr17:g.39727479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727479A>C , CM000679.2:g.39727479A>C	GRCh38
NC_000017.10:g.37883732A>C , CM000679.1:g.37883732A>C	GRCh37
NC_000017.9:g.35137258A>C	NCBI36
NG_007503.1:g.44340A>C , LRG_724:g.44340A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3344A>C MANE Select	ENSP00000269571.4:p.Asp1115Ala
ENST00000269571.9:c.3344A>C	ENSP00000269571.4:p.Asp1115Ala
ENST00000406381.6:c.3254A>C	ENSP00000385185.2:p.Asp1085Ala
ENST00000445658.6:c.2516A>C	ENSP00000404047.2:p.Asp839Ala
ENST00000541774.5:c.3299A>C	ENSP00000446466.1:p.Asp1100Ala
ENST00000578373.5:c.*3134A>C	ENSP00000463427.1:n.*3134A>C
ENST00000584450.5:c.3160-210A>C	ENSP00000463714.1:n.3160-210A>C
ENST00000584601.5:c.3254A>C	ENSP00000462438.1:p.Asp1085Ala
NM_001005862.2:c.3254A>C , LRG_724t1:c.3254A>C	NP_001005862.1:p.Asp1085Ala
NM_001289936.1:c.3299A>C , LRG_724t4:c.3299A>C	NP_001276865.1:p.Asp1100Ala
NM_001289937.1:c.3160-210A>C	NP_001276866.1:n.3160-210A>C
NM_004448.3:c.3344A>C , LRG_724t2:c.3344A>C	NP_004439.2:p.Asp1115Ala
NR_110535.1:n.3668A>C
XM_024450641.1:c.3482A>C	XP_024306409.1:p.Asp1161Ala
XM_024450642.1:c.3437A>C	XP_024306410.1:p.Asp1146Ala
XM_024450643.1:c.3392A>C	XP_024306411.1:p.Asp1131Ala
NM_001005862.3:c.3254A>C	NP_001005862.1:p.Asp1085Ala
NM_001289936.2:c.3299A>C	NP_001276865.1:p.Asp1100Ala
NM_001289937.2:c.3160-210A>C	NP_001276866.1:n.3160-210A>C
NM_001382782.1:c.3254A>C	NP_001369711.1:p.Asp1085Ala
NM_001382783.1:c.3254A>C	NP_001369712.1:p.Asp1085Ala
NM_001382784.1:c.3461A>C	NP_001369713.1:p.Asp1154Ala
NM_001382785.1:c.3446A>C	NP_001369714.1:p.Asp1149Ala
NM_001382786.1:c.3425A>C	NP_001369715.1:p.Asp1142Ala
NM_001382787.1:c.3419A>C	NP_001369716.1:p.Asp1140Ala
NM_001382788.1:c.3374A>C	NP_001369717.1:p.Asp1125Ala
NM_001382789.1:c.3365A>C	NP_001369718.1:p.Asp1122Ala
NM_001382790.1:c.3341A>C	NP_001369719.1:p.Asp1114Ala
NM_001382791.1:c.3335A>C	NP_001369720.1:p.Asp1112Ala
NM_001382792.1:c.3308A>C	NP_001369721.1:p.Asp1103Ala
NM_001382793.1:c.3302A>C	NP_001369722.1:p.Asp1101Ala
NM_001382794.1:c.3302A>C	NP_001369723.1:p.Asp1101Ala
NM_001382795.1:c.3296A>C	NP_001369724.1:p.Asp1099Ala
NM_001382796.1:c.3257A>C	NP_001369725.1:p.Asp1086Ala
NM_001382797.1:c.3245A>C	NP_001369726.1:p.Asp1082Ala
NM_001382798.1:c.3188A>C	NP_001369727.1:p.Asp1063Ala
NM_001382799.1:c.3164A>C	NP_001369728.1:p.Asp1055Ala
NM_001382800.1:c.3158A>C	NP_001369729.1:p.Asp1053Ala
NM_001382801.1:c.3140A>C	NP_001369730.1:p.Asp1047Ala
NM_001382802.1:c.3086A>C	NP_001369731.1:p.Asp1029Ala
NM_001382803.1:c.3118-210A>C	NP_001369732.1:n.3118-210A>C
NM_001382804.1:c.2516A>C	NP_001369733.1:p.Asp839Ala
NM_001382805.1:c.2393A>C	NP_001369734.1:p.Asp798Ala
NM_001382806.1:c.2306A>C	NP_001369735.1:p.Asp769Ala
NM_004448.4:c.3344A>C MANE Select	NP_004439.2:p.Asp1115Ala
NR_110535.2:n.3582A>C