Canonical Allele Identifier: CA399313300

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1002037
• ClinVar RCV Id: RCV001298407
• dbSNP Id: rs1351450168
• gnomAD v4: 17-39727797-C-G
• MyVariant Identifiers: chr17:g.37884050C>G (hg19) ; chr17:g.39727797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727797C>G , CM000679.2:g.39727797C>G	GRCh38
NC_000017.10:g.37884050C>G , CM000679.1:g.37884050C>G	GRCh37
NC_000017.9:g.35137576C>G	NCBI36
NG_007503.1:g.44658C>G , LRG_724:g.44658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3521C>G MANE Select	ENSP00000269571.4:p.Ser1174Cys
ENST00000269571.9:c.3521C>G	ENSP00000269571.4:p.Ser1174Cys
ENST00000406381.6:c.3431C>G	ENSP00000385185.2:p.Ser1144Cys
ENST00000445658.6:c.2693C>G	ENSP00000404047.2:p.Ser898Cys
ENST00000541774.5:c.3476C>G	ENSP00000446466.1:p.Ser1159Cys
ENST00000578373.5:c.*3311C>G	ENSP00000463427.1:n.*3311C>G
ENST00000584450.5:c.*100C>G	ENSP00000463714.1:n.*100C>G
ENST00000584601.5:c.3431C>G	ENSP00000462438.1:p.Ser1144Cys
NM_001005862.2:c.3431C>G , LRG_724t1:c.3431C>G	NP_001005862.1:p.Ser1144Cys
NM_001289936.1:c.3476C>G , LRG_724t4:c.3476C>G	NP_001276865.1:p.Ser1159Cys
NM_001289937.1:c.*100C>G	NP_001276866.1:n.*100C>G
NM_004448.3:c.3521C>G , LRG_724t2:c.3521C>G	NP_004439.2:p.Ser1174Cys
NR_110535.1:n.3845C>G
XM_024450641.1:c.3659C>G	XP_024306409.1:p.Ser1220Cys
XM_024450642.1:c.3614C>G	XP_024306410.1:p.Ser1205Cys
XM_024450643.1:c.3569C>G	XP_024306411.1:p.Ser1190Cys
NM_001005862.3:c.3431C>G	NP_001005862.1:p.Ser1144Cys
NM_001289936.2:c.3476C>G	NP_001276865.1:p.Ser1159Cys
NM_001289937.2:c.*100C>G	NP_001276866.1:n.*100C>G
NM_001382782.1:c.3431C>G	NP_001369711.1:p.Ser1144Cys
NM_001382783.1:c.3431C>G	NP_001369712.1:p.Ser1144Cys
NM_001382784.1:c.3638C>G	NP_001369713.1:p.Ser1213Cys
NM_001382785.1:c.3623C>G	NP_001369714.1:p.Ser1208Cys
NM_001382786.1:c.3602C>G	NP_001369715.1:p.Ser1201Cys
NM_001382787.1:c.3596C>G	NP_001369716.1:p.Ser1199Cys
NM_001382788.1:c.3551C>G	NP_001369717.1:p.Ser1184Cys
NM_001382789.1:c.3542C>G	NP_001369718.1:p.Ser1181Cys
NM_001382790.1:c.3518C>G	NP_001369719.1:p.Ser1173Cys
NM_001382791.1:c.3512C>G	NP_001369720.1:p.Ser1171Cys
NM_001382792.1:c.3485C>G	NP_001369721.1:p.Ser1162Cys
NM_001382793.1:c.3479C>G	NP_001369722.1:p.Ser1160Cys
NM_001382794.1:c.3479C>G	NP_001369723.1:p.Ser1160Cys
NM_001382795.1:c.3473C>G	NP_001369724.1:p.Ser1158Cys
NM_001382796.1:c.3434C>G	NP_001369725.1:p.Ser1145Cys
NM_001382797.1:c.3422C>G	NP_001369726.1:p.Ser1141Cys
NM_001382798.1:c.3365C>G	NP_001369727.1:p.Ser1122Cys
NM_001382799.1:c.3341C>G	NP_001369728.1:p.Ser1114Cys
NM_001382800.1:c.3335C>G	NP_001369729.1:p.Ser1112Cys
NM_001382801.1:c.3317C>G	NP_001369730.1:p.Ser1106Cys
NM_001382802.1:c.3263C>G	NP_001369731.1:p.Ser1088Cys
NM_001382803.1:c.*100C>G	NP_001369732.1:n.*100C>G
NM_001382804.1:c.2693C>G	NP_001369733.1:p.Ser898Cys
NM_001382805.1:c.2570C>G	NP_001369734.1:p.Ser857Cys
NM_001382806.1:c.2483C>G	NP_001369735.1:p.Ser828Cys
NM_004448.4:c.3521C>G MANE Select	NP_004439.2:p.Ser1174Cys
NR_110535.2:n.3759C>G