Canonical Allele Identifier: CA399312875

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143289047
• gnomAD v4: 17-39727716-C-A
• MyVariant Identifiers: chr17:g.37883969C>A (hg19) ; chr17:g.39727716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727716C>A , CM000679.2:g.39727716C>A	GRCh38
NC_000017.10:g.37883969C>A , CM000679.1:g.37883969C>A	GRCh37
NC_000017.9:g.35137495C>A	NCBI36
NG_007503.1:g.44577C>A , LRG_724:g.44577C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3440C>A MANE Select	ENSP00000269571.4:p.Pro1147His
ENST00000269571.9:c.3440C>A	ENSP00000269571.4:p.Pro1147His
ENST00000406381.6:c.3350C>A	ENSP00000385185.2:p.Pro1117His
ENST00000445658.6:c.2612C>A	ENSP00000404047.2:p.Pro871His
ENST00000541774.5:c.3395C>A	ENSP00000446466.1:p.Pro1132His
ENST00000578373.5:c.*3230C>A	ENSP00000463427.1:n.*3230C>A
ENST00000584450.5:c.*19C>A	ENSP00000463714.1:n.*19C>A
ENST00000584601.5:c.3350C>A	ENSP00000462438.1:p.Pro1117His
NM_001005862.2:c.3350C>A , LRG_724t1:c.3350C>A	NP_001005862.1:p.Pro1117His
NM_001289936.1:c.3395C>A , LRG_724t4:c.3395C>A	NP_001276865.1:p.Pro1132His
NM_001289937.1:c.*19C>A	NP_001276866.1:n.*19C>A
NM_004448.3:c.3440C>A , LRG_724t2:c.3440C>A	NP_004439.2:p.Pro1147His
NR_110535.1:n.3764C>A
XM_024450641.1:c.3578C>A	XP_024306409.1:p.Pro1193His
XM_024450642.1:c.3533C>A	XP_024306410.1:p.Pro1178His
XM_024450643.1:c.3488C>A	XP_024306411.1:p.Pro1163His
NM_001005862.3:c.3350C>A	NP_001005862.1:p.Pro1117His
NM_001289936.2:c.3395C>A	NP_001276865.1:p.Pro1132His
NM_001289937.2:c.*19C>A	NP_001276866.1:n.*19C>A
NM_001382782.1:c.3350C>A	NP_001369711.1:p.Pro1117His
NM_001382783.1:c.3350C>A	NP_001369712.1:p.Pro1117His
NM_001382784.1:c.3557C>A	NP_001369713.1:p.Pro1186His
NM_001382785.1:c.3542C>A	NP_001369714.1:p.Pro1181His
NM_001382786.1:c.3521C>A	NP_001369715.1:p.Pro1174His
NM_001382787.1:c.3515C>A	NP_001369716.1:p.Pro1172His
NM_001382788.1:c.3470C>A	NP_001369717.1:p.Pro1157His
NM_001382789.1:c.3461C>A	NP_001369718.1:p.Pro1154His
NM_001382790.1:c.3437C>A	NP_001369719.1:p.Pro1146His
NM_001382791.1:c.3431C>A	NP_001369720.1:p.Pro1144His
NM_001382792.1:c.3404C>A	NP_001369721.1:p.Pro1135His
NM_001382793.1:c.3398C>A	NP_001369722.1:p.Pro1133His
NM_001382794.1:c.3398C>A	NP_001369723.1:p.Pro1133His
NM_001382795.1:c.3392C>A	NP_001369724.1:p.Pro1131His
NM_001382796.1:c.3353C>A	NP_001369725.1:p.Pro1118His
NM_001382797.1:c.3341C>A	NP_001369726.1:p.Pro1114His
NM_001382798.1:c.3284C>A	NP_001369727.1:p.Pro1095His
NM_001382799.1:c.3260C>A	NP_001369728.1:p.Pro1087His
NM_001382800.1:c.3254C>A	NP_001369729.1:p.Pro1085His
NM_001382801.1:c.3236C>A	NP_001369730.1:p.Pro1079His
NM_001382802.1:c.3182C>A	NP_001369731.1:p.Pro1061His
NM_001382803.1:c.*19C>A	NP_001369732.1:n.*19C>A
NM_001382804.1:c.2612C>A	NP_001369733.1:p.Pro871His
NM_001382805.1:c.2489C>A	NP_001369734.1:p.Pro830His
NM_001382806.1:c.2402C>A	NP_001369735.1:p.Pro801His
NM_004448.4:c.3440C>A MANE Select	NP_004439.2:p.Pro1147His
NR_110535.2:n.3678C>A