Canonical Allele Identifier: CA399310847

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727434-G-C
• MyVariant Identifiers: chr17:g.37883687G>C (hg19) ; chr17:g.39727434G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727434G>C , CM000679.2:g.39727434G>C	GRCh38
NC_000017.10:g.37883687G>C , CM000679.1:g.37883687G>C	GRCh37
NC_000017.9:g.35137213G>C	NCBI36
NG_007503.1:g.44295G>C , LRG_724:g.44295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3299G>C MANE Select	ENSP00000269571.4:p.Ser1100Thr
ENST00000269571.9:c.3299G>C	ENSP00000269571.4:p.Ser1100Thr
ENST00000406381.6:c.3209G>C	ENSP00000385185.2:p.Ser1070Thr
ENST00000445658.6:c.2471G>C	ENSP00000404047.2:p.Ser824Thr
ENST00000541774.5:c.3254G>C	ENSP00000446466.1:p.Ser1085Thr
ENST00000578373.5:c.*3089G>C	ENSP00000463427.1:n.*3089G>C
ENST00000584450.5:c.3160-255G>C	ENSP00000463714.1:n.3160-255G>C
ENST00000584601.5:c.3209G>C	ENSP00000462438.1:p.Ser1070Thr
NM_001005862.2:c.3209G>C , LRG_724t1:c.3209G>C	NP_001005862.1:p.Ser1070Thr
NM_001289936.1:c.3254G>C , LRG_724t4:c.3254G>C	NP_001276865.1:p.Ser1085Thr
NM_001289937.1:c.3160-255G>C	NP_001276866.1:n.3160-255G>C
NM_004448.3:c.3299G>C , LRG_724t2:c.3299G>C	NP_004439.2:p.Ser1100Thr
NR_110535.1:n.3623G>C
XM_024450641.1:c.3437G>C	XP_024306409.1:p.Ser1146Thr
XM_024450642.1:c.3392G>C	XP_024306410.1:p.Ser1131Thr
XM_024450643.1:c.3347G>C	XP_024306411.1:p.Ser1116Thr
NM_001005862.3:c.3209G>C	NP_001005862.1:p.Ser1070Thr
NM_001289936.2:c.3254G>C	NP_001276865.1:p.Ser1085Thr
NM_001289937.2:c.3160-255G>C	NP_001276866.1:n.3160-255G>C
NM_001382782.1:c.3209G>C	NP_001369711.1:p.Ser1070Thr
NM_001382783.1:c.3209G>C	NP_001369712.1:p.Ser1070Thr
NM_001382784.1:c.3416G>C	NP_001369713.1:p.Ser1139Thr
NM_001382785.1:c.3401G>C	NP_001369714.1:p.Ser1134Thr
NM_001382786.1:c.3380G>C	NP_001369715.1:p.Ser1127Thr
NM_001382787.1:c.3374G>C	NP_001369716.1:p.Ser1125Thr
NM_001382788.1:c.3329G>C	NP_001369717.1:p.Ser1110Thr
NM_001382789.1:c.3320G>C	NP_001369718.1:p.Ser1107Thr
NM_001382790.1:c.3296G>C	NP_001369719.1:p.Ser1099Thr
NM_001382791.1:c.3290G>C	NP_001369720.1:p.Ser1097Thr
NM_001382792.1:c.3263G>C	NP_001369721.1:p.Ser1088Thr
NM_001382793.1:c.3257G>C	NP_001369722.1:p.Ser1086Thr
NM_001382794.1:c.3257G>C	NP_001369723.1:p.Ser1086Thr
NM_001382795.1:c.3251G>C	NP_001369724.1:p.Ser1084Thr
NM_001382796.1:c.3212G>C	NP_001369725.1:p.Ser1071Thr
NM_001382797.1:c.3200G>C	NP_001369726.1:p.Ser1067Thr
NM_001382798.1:c.3143G>C	NP_001369727.1:p.Ser1048Thr
NM_001382799.1:c.3119G>C	NP_001369728.1:p.Ser1040Thr
NM_001382800.1:c.3113G>C	NP_001369729.1:p.Ser1038Thr
NM_001382801.1:c.3095G>C	NP_001369730.1:p.Ser1032Thr
NM_001382802.1:c.3041G>C	NP_001369731.1:p.Ser1014Thr
NM_001382803.1:c.3118-255G>C	NP_001369732.1:n.3118-255G>C
NM_001382804.1:c.2471G>C	NP_001369733.1:p.Ser824Thr
NM_001382805.1:c.2348G>C	NP_001369734.1:p.Ser783Thr
NM_001382806.1:c.2261G>C	NP_001369735.1:p.Ser754Thr
NM_004448.4:c.3299G>C MANE Select	NP_004439.2:p.Ser1100Thr
NR_110535.2:n.3537G>C