Canonical Allele Identifier: CA399310765

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143247176
• gnomAD v4: 17-39727427-C-A
• MyVariant Identifiers: chr17:g.37883680C>A (hg19) ; chr17:g.39727427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727427C>A , CM000679.2:g.39727427C>A	GRCh38
NC_000017.10:g.37883680C>A , CM000679.1:g.37883680C>A	GRCh37
NC_000017.9:g.35137206C>A	NCBI36
NG_007503.1:g.44288C>A , LRG_724:g.44288C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3292C>A MANE Select	ENSP00000269571.4:p.Leu1098Met
ENST00000269571.9:c.3292C>A	ENSP00000269571.4:p.Leu1098Met
ENST00000406381.6:c.3202C>A	ENSP00000385185.2:p.Leu1068Met
ENST00000445658.6:c.2464C>A	ENSP00000404047.2:p.Leu822Met
ENST00000541774.5:c.3247C>A	ENSP00000446466.1:p.Leu1083Met
ENST00000578373.5:c.*3082C>A	ENSP00000463427.1:n.*3082C>A
ENST00000584450.5:c.3160-262C>A	ENSP00000463714.1:n.3160-262C>A
ENST00000584601.5:c.3202C>A	ENSP00000462438.1:p.Leu1068Met
NM_001005862.2:c.3202C>A , LRG_724t1:c.3202C>A	NP_001005862.1:p.Leu1068Met
NM_001289936.1:c.3247C>A , LRG_724t4:c.3247C>A	NP_001276865.1:p.Leu1083Met
NM_001289937.1:c.3160-262C>A	NP_001276866.1:n.3160-262C>A
NM_004448.3:c.3292C>A , LRG_724t2:c.3292C>A	NP_004439.2:p.Leu1098Met
NR_110535.1:n.3616C>A
XM_024450641.1:c.3430C>A	XP_024306409.1:p.Leu1144Met
XM_024450642.1:c.3385C>A	XP_024306410.1:p.Leu1129Met
XM_024450643.1:c.3340C>A	XP_024306411.1:p.Leu1114Met
NM_001005862.3:c.3202C>A	NP_001005862.1:p.Leu1068Met
NM_001289936.2:c.3247C>A	NP_001276865.1:p.Leu1083Met
NM_001289937.2:c.3160-262C>A	NP_001276866.1:n.3160-262C>A
NM_001382782.1:c.3202C>A	NP_001369711.1:p.Leu1068Met
NM_001382783.1:c.3202C>A	NP_001369712.1:p.Leu1068Met
NM_001382784.1:c.3409C>A	NP_001369713.1:p.Leu1137Met
NM_001382785.1:c.3394C>A	NP_001369714.1:p.Leu1132Met
NM_001382786.1:c.3373C>A	NP_001369715.1:p.Leu1125Met
NM_001382787.1:c.3367C>A	NP_001369716.1:p.Leu1123Met
NM_001382788.1:c.3322C>A	NP_001369717.1:p.Leu1108Met
NM_001382789.1:c.3313C>A	NP_001369718.1:p.Leu1105Met
NM_001382790.1:c.3289C>A	NP_001369719.1:p.Leu1097Met
NM_001382791.1:c.3283C>A	NP_001369720.1:p.Leu1095Met
NM_001382792.1:c.3256C>A	NP_001369721.1:p.Leu1086Met
NM_001382793.1:c.3250C>A	NP_001369722.1:p.Leu1084Met
NM_001382794.1:c.3250C>A	NP_001369723.1:p.Leu1084Met
NM_001382795.1:c.3244C>A	NP_001369724.1:p.Leu1082Met
NM_001382796.1:c.3205C>A	NP_001369725.1:p.Leu1069Met
NM_001382797.1:c.3193C>A	NP_001369726.1:p.Leu1065Met
NM_001382798.1:c.3136C>A	NP_001369727.1:p.Leu1046Met
NM_001382799.1:c.3112C>A	NP_001369728.1:p.Leu1038Met
NM_001382800.1:c.3106C>A	NP_001369729.1:p.Leu1036Met
NM_001382801.1:c.3088C>A	NP_001369730.1:p.Leu1030Met
NM_001382802.1:c.3034C>A	NP_001369731.1:p.Leu1012Met
NM_001382803.1:c.3118-262C>A	NP_001369732.1:n.3118-262C>A
NM_001382804.1:c.2464C>A	NP_001369733.1:p.Leu822Met
NM_001382805.1:c.2341C>A	NP_001369734.1:p.Leu781Met
NM_001382806.1:c.2254C>A	NP_001369735.1:p.Leu752Met
NM_004448.4:c.3292C>A MANE Select	NP_004439.2:p.Leu1098Met
NR_110535.2:n.3530C>A