Canonical Allele Identifier: CA399310322

Gene: ERBB2

Linked Data

• dbSNP Id: rs953143516
• gnomAD v2: 17-37883604-G-C
• gnomAD v3: 17-39727351-G-C
• gnomAD v4: 17-39727351-G-C
• MyVariant Identifiers: chr17:g.37883604G>C (hg19) ; chr17:g.39727351G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727351G>C , CM000679.2:g.39727351G>C	GRCh38
NC_000017.10:g.37883604G>C , CM000679.1:g.37883604G>C	GRCh37
NC_000017.9:g.35137130G>C	NCBI36
NG_007503.1:g.44212G>C , LRG_724:g.44212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3216G>C MANE Select	ENSP00000269571.4:p.Arg1072Ser
ENST00000269571.9:c.3216G>C	ENSP00000269571.4:p.Arg1072Ser
ENST00000406381.6:c.3126G>C	ENSP00000385185.2:p.Arg1042Ser
ENST00000445658.6:c.2388G>C	ENSP00000404047.2:p.Arg796Ser
ENST00000541774.5:c.3171G>C	ENSP00000446466.1:p.Arg1057Ser
ENST00000578373.5:c.*3006G>C	ENSP00000463427.1:n.*3006G>C
ENST00000584450.5:c.3160-338G>C	ENSP00000463714.1:n.3160-338G>C
ENST00000584601.5:c.3126G>C	ENSP00000462438.1:p.Arg1042Ser
NM_001005862.2:c.3126G>C , LRG_724t1:c.3126G>C	NP_001005862.1:p.Arg1042Ser
NM_001289936.1:c.3171G>C , LRG_724t4:c.3171G>C	NP_001276865.1:p.Arg1057Ser
NM_001289937.1:c.3160-338G>C	NP_001276866.1:n.3160-338G>C
NM_004448.3:c.3216G>C , LRG_724t2:c.3216G>C	NP_004439.2:p.Arg1072Ser
NR_110535.1:n.3540G>C
XM_024450641.1:c.3354G>C	XP_024306409.1:p.Arg1118Ser
XM_024450642.1:c.3309G>C	XP_024306410.1:p.Arg1103Ser
XM_024450643.1:c.3264G>C	XP_024306411.1:p.Arg1088Ser
NM_001005862.3:c.3126G>C	NP_001005862.1:p.Arg1042Ser
NM_001289936.2:c.3171G>C	NP_001276865.1:p.Arg1057Ser
NM_001289937.2:c.3160-338G>C	NP_001276866.1:n.3160-338G>C
NM_001382782.1:c.3126G>C	NP_001369711.1:p.Arg1042Ser
NM_001382783.1:c.3126G>C	NP_001369712.1:p.Arg1042Ser
NM_001382784.1:c.3333G>C	NP_001369713.1:p.Arg1111Ser
NM_001382785.1:c.3318G>C	NP_001369714.1:p.Arg1106Ser
NM_001382786.1:c.3297G>C	NP_001369715.1:p.Arg1099Ser
NM_001382787.1:c.3291G>C	NP_001369716.1:p.Arg1097Ser
NM_001382788.1:c.3246G>C	NP_001369717.1:p.Arg1082Ser
NM_001382789.1:c.3237G>C	NP_001369718.1:p.Arg1079Ser
NM_001382790.1:c.3213G>C	NP_001369719.1:p.Arg1071Ser
NM_001382791.1:c.3207G>C	NP_001369720.1:p.Arg1069Ser
NM_001382792.1:c.3180G>C	NP_001369721.1:p.Arg1060Ser
NM_001382793.1:c.3174G>C	NP_001369722.1:p.Arg1058Ser
NM_001382794.1:c.3174G>C	NP_001369723.1:p.Arg1058Ser
NM_001382795.1:c.3168G>C	NP_001369724.1:p.Arg1056Ser
NM_001382796.1:c.3129G>C	NP_001369725.1:p.Arg1043Ser
NM_001382797.1:c.3117G>C	NP_001369726.1:p.Arg1039Ser
NM_001382798.1:c.3060G>C	NP_001369727.1:p.Arg1020Ser
NM_001382799.1:c.3036G>C	NP_001369728.1:p.Arg1012Ser
NM_001382800.1:c.3030G>C	NP_001369729.1:p.Arg1010Ser
NM_001382801.1:c.3012G>C	NP_001369730.1:p.Arg1004Ser
NM_001382802.1:c.2958G>C	NP_001369731.1:p.Arg986Ser
NM_001382803.1:c.3118-338G>C	NP_001369732.1:n.3118-338G>C
NM_001382804.1:c.2388G>C	NP_001369733.1:p.Arg796Ser
NM_001382805.1:c.2265G>C	NP_001369734.1:p.Arg755Ser
NM_001382806.1:c.2178G>C	NP_001369735.1:p.Arg726Ser
NM_004448.4:c.3216G>C MANE Select	NP_004439.2:p.Arg1072Ser
NR_110535.2:n.3454G>C