Canonical Allele Identifier: CA399312877

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727718-C-A
• MyVariant Identifiers: chr17:g.37883971C>A (hg19) ; chr17:g.39727718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727718C>A , CM000679.2:g.39727718C>A	GRCh38
NC_000017.10:g.37883971C>A , CM000679.1:g.37883971C>A	GRCh37
NC_000017.9:g.35137497C>A	NCBI36
NG_007503.1:g.44579C>A , LRG_724:g.44579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3442C>A MANE Select	ENSP00000269571.4:p.Gln1148Lys
ENST00000269571.9:c.3442C>A	ENSP00000269571.4:p.Gln1148Lys
ENST00000406381.6:c.3352C>A	ENSP00000385185.2:p.Gln1118Lys
ENST00000445658.6:c.2614C>A	ENSP00000404047.2:p.Gln872Lys
ENST00000541774.5:c.3397C>A	ENSP00000446466.1:p.Gln1133Lys
ENST00000578373.5:c.*3232C>A	ENSP00000463427.1:n.*3232C>A
ENST00000584450.5:c.*21C>A	ENSP00000463714.1:n.*21C>A
ENST00000584601.5:c.3352C>A	ENSP00000462438.1:p.Gln1118Lys
NM_001005862.2:c.3352C>A , LRG_724t1:c.3352C>A	NP_001005862.1:p.Gln1118Lys
NM_001289936.1:c.3397C>A , LRG_724t4:c.3397C>A	NP_001276865.1:p.Gln1133Lys
NM_001289937.1:c.*21C>A	NP_001276866.1:n.*21C>A
NM_004448.3:c.3442C>A , LRG_724t2:c.3442C>A	NP_004439.2:p.Gln1148Lys
NR_110535.1:n.3766C>A
XM_024450641.1:c.3580C>A	XP_024306409.1:p.Gln1194Lys
XM_024450642.1:c.3535C>A	XP_024306410.1:p.Gln1179Lys
XM_024450643.1:c.3490C>A	XP_024306411.1:p.Gln1164Lys
NM_001005862.3:c.3352C>A	NP_001005862.1:p.Gln1118Lys
NM_001289936.2:c.3397C>A	NP_001276865.1:p.Gln1133Lys
NM_001289937.2:c.*21C>A	NP_001276866.1:n.*21C>A
NM_001382782.1:c.3352C>A	NP_001369711.1:p.Gln1118Lys
NM_001382783.1:c.3352C>A	NP_001369712.1:p.Gln1118Lys
NM_001382784.1:c.3559C>A	NP_001369713.1:p.Gln1187Lys
NM_001382785.1:c.3544C>A	NP_001369714.1:p.Gln1182Lys
NM_001382786.1:c.3523C>A	NP_001369715.1:p.Gln1175Lys
NM_001382787.1:c.3517C>A	NP_001369716.1:p.Gln1173Lys
NM_001382788.1:c.3472C>A	NP_001369717.1:p.Gln1158Lys
NM_001382789.1:c.3463C>A	NP_001369718.1:p.Gln1155Lys
NM_001382790.1:c.3439C>A	NP_001369719.1:p.Gln1147Lys
NM_001382791.1:c.3433C>A	NP_001369720.1:p.Gln1145Lys
NM_001382792.1:c.3406C>A	NP_001369721.1:p.Gln1136Lys
NM_001382793.1:c.3400C>A	NP_001369722.1:p.Gln1134Lys
NM_001382794.1:c.3400C>A	NP_001369723.1:p.Gln1134Lys
NM_001382795.1:c.3394C>A	NP_001369724.1:p.Gln1132Lys
NM_001382796.1:c.3355C>A	NP_001369725.1:p.Gln1119Lys
NM_001382797.1:c.3343C>A	NP_001369726.1:p.Gln1115Lys
NM_001382798.1:c.3286C>A	NP_001369727.1:p.Gln1096Lys
NM_001382799.1:c.3262C>A	NP_001369728.1:p.Gln1088Lys
NM_001382800.1:c.3256C>A	NP_001369729.1:p.Gln1086Lys
NM_001382801.1:c.3238C>A	NP_001369730.1:p.Gln1080Lys
NM_001382802.1:c.3184C>A	NP_001369731.1:p.Gln1062Lys
NM_001382803.1:c.*21C>A	NP_001369732.1:n.*21C>A
NM_001382804.1:c.2614C>A	NP_001369733.1:p.Gln872Lys
NM_001382805.1:c.2491C>A	NP_001369734.1:p.Gln831Lys
NM_001382806.1:c.2404C>A	NP_001369735.1:p.Gln802Lys
NM_004448.4:c.3442C>A MANE Select	NP_004439.2:p.Gln1148Lys
NR_110535.2:n.3680C>A