Canonical Allele Identifier: CA399314455

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 2099932
• ClinVar RCV Id: RCV003021962
• dbSNP Id: rs2143313841
• MyVariant Identifiers: chr17:g.37884202C>T (hg19) ; chr17:g.39727949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727949C>T , CM000679.2:g.39727949C>T	GRCh38
NC_000017.10:g.37884202C>T , CM000679.1:g.37884202C>T	GRCh37
NC_000017.9:g.35137728C>T	NCBI36
NG_007503.1:g.44810C>T , LRG_724:g.44810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3673C>T MANE Select	ENSP00000269571.4:p.Gln1225Ter
ENST00000269571.9:c.3673C>T	ENSP00000269571.4:p.Gln1225Ter
ENST00000406381.6:c.3583C>T	ENSP00000385185.2:p.Gln1195Ter
ENST00000445658.6:c.2845C>T	ENSP00000404047.2:p.Gln949Ter
ENST00000541774.5:c.3628C>T	ENSP00000446466.1:p.Gln1210Ter
ENST00000578373.5:c.*3463C>T	ENSP00000463427.1:n.*3463C>T
ENST00000584450.5:c.*252C>T	ENSP00000463714.1:n.*252C>T
ENST00000584601.5:c.3583C>T	ENSP00000462438.1:p.Gln1195Ter
NM_001005862.2:c.3583C>T , LRG_724t1:c.3583C>T	NP_001005862.1:p.Gln1195Ter
NM_001289936.1:c.3628C>T , LRG_724t4:c.3628C>T	NP_001276865.1:p.Gln1210Ter
NM_001289937.1:c.*252C>T	NP_001276866.1:n.*252C>T
NM_004448.3:c.3673C>T , LRG_724t2:c.3673C>T	NP_004439.2:p.Gln1225Ter
NR_110535.1:n.3997C>T
XM_024450641.1:c.3811C>T	XP_024306409.1:p.Gln1271Ter
XM_024450642.1:c.3766C>T	XP_024306410.1:p.Gln1256Ter
XM_024450643.1:c.3721C>T	XP_024306411.1:p.Gln1241Ter
NM_001005862.3:c.3583C>T	NP_001005862.1:p.Gln1195Ter
NM_001289936.2:c.3628C>T	NP_001276865.1:p.Gln1210Ter
NM_001289937.2:c.*252C>T	NP_001276866.1:n.*252C>T
NM_001382782.1:c.3583C>T	NP_001369711.1:p.Gln1195Ter
NM_001382783.1:c.3583C>T	NP_001369712.1:p.Gln1195Ter
NM_001382784.1:c.3790C>T	NP_001369713.1:p.Gln1264Ter
NM_001382785.1:c.3775C>T	NP_001369714.1:p.Gln1259Ter
NM_001382786.1:c.3754C>T	NP_001369715.1:p.Gln1252Ter
NM_001382787.1:c.3748C>T	NP_001369716.1:p.Gln1250Ter
NM_001382788.1:c.3703C>T	NP_001369717.1:p.Gln1235Ter
NM_001382789.1:c.3694C>T	NP_001369718.1:p.Gln1232Ter
NM_001382790.1:c.3670C>T	NP_001369719.1:p.Gln1224Ter
NM_001382791.1:c.3664C>T	NP_001369720.1:p.Gln1222Ter
NM_001382792.1:c.3637C>T	NP_001369721.1:p.Gln1213Ter
NM_001382793.1:c.3631C>T	NP_001369722.1:p.Gln1211Ter
NM_001382794.1:c.3631C>T	NP_001369723.1:p.Gln1211Ter
NM_001382795.1:c.3625C>T	NP_001369724.1:p.Gln1209Ter
NM_001382796.1:c.3586C>T	NP_001369725.1:p.Gln1196Ter
NM_001382797.1:c.3574C>T	NP_001369726.1:p.Gln1192Ter
NM_001382798.1:c.3517C>T	NP_001369727.1:p.Gln1173Ter
NM_001382799.1:c.3493C>T	NP_001369728.1:p.Gln1165Ter
NM_001382800.1:c.3487C>T	NP_001369729.1:p.Gln1163Ter
NM_001382801.1:c.3469C>T	NP_001369730.1:p.Gln1157Ter
NM_001382802.1:c.3415C>T	NP_001369731.1:p.Gln1139Ter
NM_001382803.1:c.*252C>T	NP_001369732.1:n.*252C>T
NM_001382804.1:c.2845C>T	NP_001369733.1:p.Gln949Ter
NM_001382805.1:c.2722C>T	NP_001369734.1:p.Gln908Ter
NM_001382806.1:c.2635C>T	NP_001369735.1:p.Gln879Ter
NM_004448.4:c.3673C>T MANE Select	NP_004439.2:p.Gln1225Ter
NR_110535.2:n.3911C>T