Canonical Allele Identifier: CA399310351

Gene: ERBB2

Linked Data

• dbSNP Id: rs1207391721
• gnomAD v3: 17-39727355-C-T
• gnomAD v4: 17-39727355-C-T
• MyVariant Identifiers: chr17:g.37883608C>T (hg19) ; chr17:g.39727355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727355C>T , CM000679.2:g.39727355C>T	GRCh38
NC_000017.10:g.37883608C>T , CM000679.1:g.37883608C>T	GRCh37
NC_000017.9:g.35137134C>T	NCBI36
NG_007503.1:g.44216C>T , LRG_724:g.44216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3220C>T MANE Select	ENSP00000269571.4:p.Pro1074Ser
ENST00000269571.9:c.3220C>T	ENSP00000269571.4:p.Pro1074Ser
ENST00000406381.6:c.3130C>T	ENSP00000385185.2:p.Pro1044Ser
ENST00000445658.6:c.2392C>T	ENSP00000404047.2:p.Pro798Ser
ENST00000541774.5:c.3175C>T	ENSP00000446466.1:p.Pro1059Ser
ENST00000578373.5:c.*3010C>T	ENSP00000463427.1:n.*3010C>T
ENST00000584450.5:c.3160-334C>T	ENSP00000463714.1:n.3160-334C>T
ENST00000584601.5:c.3130C>T	ENSP00000462438.1:p.Pro1044Ser
NM_001005862.2:c.3130C>T , LRG_724t1:c.3130C>T	NP_001005862.1:p.Pro1044Ser
NM_001289936.1:c.3175C>T , LRG_724t4:c.3175C>T	NP_001276865.1:p.Pro1059Ser
NM_001289937.1:c.3160-334C>T	NP_001276866.1:n.3160-334C>T
NM_004448.3:c.3220C>T , LRG_724t2:c.3220C>T	NP_004439.2:p.Pro1074Ser
NR_110535.1:n.3544C>T
XM_024450641.1:c.3358C>T	XP_024306409.1:p.Pro1120Ser
XM_024450642.1:c.3313C>T	XP_024306410.1:p.Pro1105Ser
XM_024450643.1:c.3268C>T	XP_024306411.1:p.Pro1090Ser
NM_001005862.3:c.3130C>T	NP_001005862.1:p.Pro1044Ser
NM_001289936.2:c.3175C>T	NP_001276865.1:p.Pro1059Ser
NM_001289937.2:c.3160-334C>T	NP_001276866.1:n.3160-334C>T
NM_001382782.1:c.3130C>T	NP_001369711.1:p.Pro1044Ser
NM_001382783.1:c.3130C>T	NP_001369712.1:p.Pro1044Ser
NM_001382784.1:c.3337C>T	NP_001369713.1:p.Pro1113Ser
NM_001382785.1:c.3322C>T	NP_001369714.1:p.Pro1108Ser
NM_001382786.1:c.3301C>T	NP_001369715.1:p.Pro1101Ser
NM_001382787.1:c.3295C>T	NP_001369716.1:p.Pro1099Ser
NM_001382788.1:c.3250C>T	NP_001369717.1:p.Pro1084Ser
NM_001382789.1:c.3241C>T	NP_001369718.1:p.Pro1081Ser
NM_001382790.1:c.3217C>T	NP_001369719.1:p.Pro1073Ser
NM_001382791.1:c.3211C>T	NP_001369720.1:p.Pro1071Ser
NM_001382792.1:c.3184C>T	NP_001369721.1:p.Pro1062Ser
NM_001382793.1:c.3178C>T	NP_001369722.1:p.Pro1060Ser
NM_001382794.1:c.3178C>T	NP_001369723.1:p.Pro1060Ser
NM_001382795.1:c.3172C>T	NP_001369724.1:p.Pro1058Ser
NM_001382796.1:c.3133C>T	NP_001369725.1:p.Pro1045Ser
NM_001382797.1:c.3121C>T	NP_001369726.1:p.Pro1041Ser
NM_001382798.1:c.3064C>T	NP_001369727.1:p.Pro1022Ser
NM_001382799.1:c.3040C>T	NP_001369728.1:p.Pro1014Ser
NM_001382800.1:c.3034C>T	NP_001369729.1:p.Pro1012Ser
NM_001382801.1:c.3016C>T	NP_001369730.1:p.Pro1006Ser
NM_001382802.1:c.2962C>T	NP_001369731.1:p.Pro988Ser
NM_001382803.1:c.3118-334C>T	NP_001369732.1:n.3118-334C>T
NM_001382804.1:c.2392C>T	NP_001369733.1:p.Pro798Ser
NM_001382805.1:c.2269C>T	NP_001369734.1:p.Pro757Ser
NM_001382806.1:c.2182C>T	NP_001369735.1:p.Pro728Ser
NM_004448.4:c.3220C>T MANE Select	NP_004439.2:p.Pro1074Ser
NR_110535.2:n.3458C>T