Canonical Allele Identifier: CA399313860

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727872-C-T
• MyVariant Identifiers: chr17:g.37884125C>T (hg19) ; chr17:g.39727872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727872C>T , CM000679.2:g.39727872C>T	GRCh38
NC_000017.10:g.37884125C>T , CM000679.1:g.37884125C>T	GRCh37
NC_000017.9:g.35137651C>T	NCBI36
NG_007503.1:g.44733C>T , LRG_724:g.44733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3596C>T MANE Select	ENSP00000269571.4:p.Pro1199Leu
ENST00000269571.9:c.3596C>T	ENSP00000269571.4:p.Pro1199Leu
ENST00000406381.6:c.3506C>T	ENSP00000385185.2:p.Pro1169Leu
ENST00000445658.6:c.2768C>T	ENSP00000404047.2:p.Pro923Leu
ENST00000541774.5:c.3551C>T	ENSP00000446466.1:p.Pro1184Leu
ENST00000578373.5:c.*3386C>T	ENSP00000463427.1:n.*3386C>T
ENST00000584450.5:c.*175C>T	ENSP00000463714.1:n.*175C>T
ENST00000584601.5:c.3506C>T	ENSP00000462438.1:p.Pro1169Leu
NM_001005862.2:c.3506C>T , LRG_724t1:c.3506C>T	NP_001005862.1:p.Pro1169Leu
NM_001289936.1:c.3551C>T , LRG_724t4:c.3551C>T	NP_001276865.1:p.Pro1184Leu
NM_001289937.1:c.*175C>T	NP_001276866.1:n.*175C>T
NM_004448.3:c.3596C>T , LRG_724t2:c.3596C>T	NP_004439.2:p.Pro1199Leu
NR_110535.1:n.3920C>T
XM_024450641.1:c.3734C>T	XP_024306409.1:p.Pro1245Leu
XM_024450642.1:c.3689C>T	XP_024306410.1:p.Pro1230Leu
XM_024450643.1:c.3644C>T	XP_024306411.1:p.Pro1215Leu
NM_001005862.3:c.3506C>T	NP_001005862.1:p.Pro1169Leu
NM_001289936.2:c.3551C>T	NP_001276865.1:p.Pro1184Leu
NM_001289937.2:c.*175C>T	NP_001276866.1:n.*175C>T
NM_001382782.1:c.3506C>T	NP_001369711.1:p.Pro1169Leu
NM_001382783.1:c.3506C>T	NP_001369712.1:p.Pro1169Leu
NM_001382784.1:c.3713C>T	NP_001369713.1:p.Pro1238Leu
NM_001382785.1:c.3698C>T	NP_001369714.1:p.Pro1233Leu
NM_001382786.1:c.3677C>T	NP_001369715.1:p.Pro1226Leu
NM_001382787.1:c.3671C>T	NP_001369716.1:p.Pro1224Leu
NM_001382788.1:c.3626C>T	NP_001369717.1:p.Pro1209Leu
NM_001382789.1:c.3617C>T	NP_001369718.1:p.Pro1206Leu
NM_001382790.1:c.3593C>T	NP_001369719.1:p.Pro1198Leu
NM_001382791.1:c.3587C>T	NP_001369720.1:p.Pro1196Leu
NM_001382792.1:c.3560C>T	NP_001369721.1:p.Pro1187Leu
NM_001382793.1:c.3554C>T	NP_001369722.1:p.Pro1185Leu
NM_001382794.1:c.3554C>T	NP_001369723.1:p.Pro1185Leu
NM_001382795.1:c.3548C>T	NP_001369724.1:p.Pro1183Leu
NM_001382796.1:c.3509C>T	NP_001369725.1:p.Pro1170Leu
NM_001382797.1:c.3497C>T	NP_001369726.1:p.Pro1166Leu
NM_001382798.1:c.3440C>T	NP_001369727.1:p.Pro1147Leu
NM_001382799.1:c.3416C>T	NP_001369728.1:p.Pro1139Leu
NM_001382800.1:c.3410C>T	NP_001369729.1:p.Pro1137Leu
NM_001382801.1:c.3392C>T	NP_001369730.1:p.Pro1131Leu
NM_001382802.1:c.3338C>T	NP_001369731.1:p.Pro1113Leu
NM_001382803.1:c.*175C>T	NP_001369732.1:n.*175C>T
NM_001382804.1:c.2768C>T	NP_001369733.1:p.Pro923Leu
NM_001382805.1:c.2645C>T	NP_001369734.1:p.Pro882Leu
NM_001382806.1:c.2558C>T	NP_001369735.1:p.Pro853Leu
NM_004448.4:c.3596C>T MANE Select	NP_004439.2:p.Pro1199Leu
NR_110535.2:n.3834C>T