Canonical Allele Identifier: CA499890308

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1649469
• ClinVar RCV Id: RCV002146412
• dbSNP Id: rs146177313
• gnomAD v2: 17-37883952-C-T
• MyVariant Identifiers: chr17:g.37883952C>T (hg19) ; chr17:g.39727699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727699C>T , CM000679.2:g.39727699C>T	GRCh38
NC_000017.10:g.37883952C>T , CM000679.1:g.37883952C>T	GRCh37
NC_000017.9:g.35137478C>T	NCBI36
NG_007503.1:g.44560C>T , LRG_724:g.44560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3423C>T MANE Select	ENSP00000269571.4:p.Asn1141=
ENST00000269571.9:c.3423C>T	ENSP00000269571.4:p.Asn1141=
ENST00000406381.6:c.3333C>T	ENSP00000385185.2:p.Asn1111=
ENST00000445658.6:c.2595C>T	ENSP00000404047.2:p.Asn865=
ENST00000541774.5:c.3378C>T	ENSP00000446466.1:p.Asn1126=
ENST00000578373.5:c.*3213C>T	ENSP00000463427.1:n.*3213C>T
ENST00000584450.5:c.*2C>T	ENSP00000463714.1:n.*2C>T
ENST00000584601.5:c.3333C>T	ENSP00000462438.1:p.Asn1111=
NM_001005862.2:c.3333C>T , LRG_724t1:c.3333C>T	NP_001005862.1:p.Asn1111=
NM_001289936.1:c.3378C>T , LRG_724t4:c.3378C>T	NP_001276865.1:p.Asn1126=
NM_001289937.1:c.*2C>T	NP_001276866.1:n.*2C>T
NM_004448.3:c.3423C>T , LRG_724t2:c.3423C>T	NP_004439.2:p.Asn1141=
NR_110535.1:n.3747C>T
XM_024450641.1:c.3561C>T	XP_024306409.1:p.Asn1187=
XM_024450642.1:c.3516C>T	XP_024306410.1:p.Asn1172=
XM_024450643.1:c.3471C>T	XP_024306411.1:p.Asn1157=
NM_001005862.3:c.3333C>T	NP_001005862.1:p.Asn1111=
NM_001289936.2:c.3378C>T	NP_001276865.1:p.Asn1126=
NM_001289937.2:c.*2C>T	NP_001276866.1:n.*2C>T
NM_001382782.1:c.3333C>T	NP_001369711.1:p.Asn1111=
NM_001382783.1:c.3333C>T	NP_001369712.1:p.Asn1111=
NM_001382784.1:c.3540C>T	NP_001369713.1:p.Asn1180=
NM_001382785.1:c.3525C>T	NP_001369714.1:p.Asn1175=
NM_001382786.1:c.3504C>T	NP_001369715.1:p.Asn1168=
NM_001382787.1:c.3498C>T	NP_001369716.1:p.Asn1166=
NM_001382788.1:c.3453C>T	NP_001369717.1:p.Asn1151=
NM_001382789.1:c.3444C>T	NP_001369718.1:p.Asn1148=
NM_001382790.1:c.3420C>T	NP_001369719.1:p.Asn1140=
NM_001382791.1:c.3414C>T	NP_001369720.1:p.Asn1138=
NM_001382792.1:c.3387C>T	NP_001369721.1:p.Asn1129=
NM_001382793.1:c.3381C>T	NP_001369722.1:p.Asn1127=
NM_001382794.1:c.3381C>T	NP_001369723.1:p.Asn1127=
NM_001382795.1:c.3375C>T	NP_001369724.1:p.Asn1125=
NM_001382796.1:c.3336C>T	NP_001369725.1:p.Asn1112=
NM_001382797.1:c.3324C>T	NP_001369726.1:p.Asn1108=
NM_001382798.1:c.3267C>T	NP_001369727.1:p.Asn1089=
NM_001382799.1:c.3243C>T	NP_001369728.1:p.Asn1081=
NM_001382800.1:c.3237C>T	NP_001369729.1:p.Asn1079=
NM_001382801.1:c.3219C>T	NP_001369730.1:p.Asn1073=
NM_001382802.1:c.3165C>T	NP_001369731.1:p.Asn1055=
NM_001382803.1:c.*2C>T	NP_001369732.1:n.*2C>T
NM_001382804.1:c.2595C>T	NP_001369733.1:p.Asn865=
NM_001382805.1:c.2472C>T	NP_001369734.1:p.Asn824=
NM_001382806.1:c.2385C>T	NP_001369735.1:p.Asn795=
NM_004448.4:c.3423C>T MANE Select	NP_004439.2:p.Asn1141=
NR_110535.2:n.3661C>T