Canonical Allele Identifier: CA399312842

Gene: ERBB2

Linked Data

• dbSNP Id: rs146177313
• gnomAD v4: 17-39727699-C-G
• MyVariant Identifiers: chr17:g.37883952C>G (hg19) ; chr17:g.39727699C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3423C>G MANE Select	ENSP00000269571.4:p.Asn1141Lys
ENST00000269571.9:c.3423C>G	ENSP00000269571.4:p.Asn1141Lys
ENST00000406381.6:c.3333C>G	ENSP00000385185.2:p.Asn1111Lys
ENST00000445658.6:c.2595C>G	ENSP00000404047.2:p.Asn865Lys
ENST00000541774.5:c.3378C>G	ENSP00000446466.1:p.Asn1126Lys
ENST00000578373.5:c.*3213C>G	ENSP00000463427.1:n.*3213C>G
ENST00000584450.5:c.*2C>G	ENSP00000463714.1:n.*2C>G
ENST00000584601.5:c.3333C>G	ENSP00000462438.1:p.Asn1111Lys
NM_001005862.2:c.3333C>G , LRG_724t1:c.3333C>G	NP_001005862.1:p.Asn1111Lys
NM_001289936.1:c.3378C>G , LRG_724t4:c.3378C>G	NP_001276865.1:p.Asn1126Lys
NM_001289937.1:c.*2C>G	NP_001276866.1:n.*2C>G
NM_004448.3:c.3423C>G , LRG_724t2:c.3423C>G	NP_004439.2:p.Asn1141Lys
NR_110535.1:n.3747C>G
XM_024450641.1:c.3561C>G	XP_024306409.1:p.Asn1187Lys
XM_024450642.1:c.3516C>G	XP_024306410.1:p.Asn1172Lys
XM_024450643.1:c.3471C>G	XP_024306411.1:p.Asn1157Lys
NM_001005862.3:c.3333C>G	NP_001005862.1:p.Asn1111Lys
NM_001289936.2:c.3378C>G	NP_001276865.1:p.Asn1126Lys
NM_001289937.2:c.*2C>G	NP_001276866.1:n.*2C>G
NM_001382782.1:c.3333C>G	NP_001369711.1:p.Asn1111Lys
NM_001382783.1:c.3333C>G	NP_001369712.1:p.Asn1111Lys
NM_001382784.1:c.3540C>G	NP_001369713.1:p.Asn1180Lys
NM_001382785.1:c.3525C>G	NP_001369714.1:p.Asn1175Lys
NM_001382786.1:c.3504C>G	NP_001369715.1:p.Asn1168Lys
NM_001382787.1:c.3498C>G	NP_001369716.1:p.Asn1166Lys
NM_001382788.1:c.3453C>G	NP_001369717.1:p.Asn1151Lys
NM_001382789.1:c.3444C>G	NP_001369718.1:p.Asn1148Lys
NM_001382790.1:c.3420C>G	NP_001369719.1:p.Asn1140Lys
NM_001382791.1:c.3414C>G	NP_001369720.1:p.Asn1138Lys
NM_001382792.1:c.3387C>G	NP_001369721.1:p.Asn1129Lys
NM_001382793.1:c.3381C>G	NP_001369722.1:p.Asn1127Lys
NM_001382794.1:c.3381C>G	NP_001369723.1:p.Asn1127Lys
NM_001382795.1:c.3375C>G	NP_001369724.1:p.Asn1125Lys
NM_001382796.1:c.3336C>G	NP_001369725.1:p.Asn1112Lys
NM_001382797.1:c.3324C>G	NP_001369726.1:p.Asn1108Lys
NM_001382798.1:c.3267C>G	NP_001369727.1:p.Asn1089Lys
NM_001382799.1:c.3243C>G	NP_001369728.1:p.Asn1081Lys
NM_001382800.1:c.3237C>G	NP_001369729.1:p.Asn1079Lys
NM_001382801.1:c.3219C>G	NP_001369730.1:p.Asn1073Lys
NM_001382802.1:c.3165C>G	NP_001369731.1:p.Asn1055Lys
NM_001382803.1:c.*2C>G	NP_001369732.1:n.*2C>G
NM_001382804.1:c.2595C>G	NP_001369733.1:p.Asn865Lys
NM_001382805.1:c.2472C>G	NP_001369734.1:p.Asn824Lys
NM_001382806.1:c.2385C>G	NP_001369735.1:p.Asn795Lys
NM_004448.4:c.3423C>G MANE Select	NP_004439.2:p.Asn1141Lys
NR_110535.2:n.3661C>G