Canonical Allele Identifier: CA8534588

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1583967
• ClinVar RCV Id: RCV002100133
• dbSNP Id: rs755767616
• ExAC: 17:37884111 C / T
• gnomAD v2: 17-37884111-C-T
• gnomAD v3: 17-39727858-C-T
• gnomAD v4: 17-39727858-C-T
• MyVariant Identifiers: chr17:g.37884111C>T (hg19) ; chr17:g.39727858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727858C>T , CM000679.2:g.39727858C>T	GRCh38
NC_000017.10:g.37884111C>T , CM000679.1:g.37884111C>T	GRCh37
NC_000017.9:g.35137637C>T	NCBI36
NG_007503.1:g.44719C>T , LRG_724:g.44719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3582C>T MANE Select	ENSP00000269571.4:p.Pro1194=
ENST00000269571.9:c.3582C>T	ENSP00000269571.4:p.Pro1194=
ENST00000406381.6:c.3492C>T	ENSP00000385185.2:p.Pro1164=
ENST00000445658.6:c.2754C>T	ENSP00000404047.2:p.Pro918=
ENST00000541774.5:c.3537C>T	ENSP00000446466.1:p.Pro1179=
ENST00000578373.5:c.*3372C>T	ENSP00000463427.1:n.*3372C>T
ENST00000584450.5:c.*161C>T	ENSP00000463714.1:n.*161C>T
ENST00000584601.5:c.3492C>T	ENSP00000462438.1:p.Pro1164=
NM_001005862.2:c.3492C>T , LRG_724t1:c.3492C>T	NP_001005862.1:p.Pro1164=
NM_001289936.1:c.3537C>T , LRG_724t4:c.3537C>T	NP_001276865.1:p.Pro1179=
NM_001289937.1:c.*161C>T	NP_001276866.1:n.*161C>T
NM_004448.3:c.3582C>T , LRG_724t2:c.3582C>T	NP_004439.2:p.Pro1194=
NR_110535.1:n.3906C>T
XM_024450641.1:c.3720C>T	XP_024306409.1:p.Pro1240=
XM_024450642.1:c.3675C>T	XP_024306410.1:p.Pro1225=
XM_024450643.1:c.3630C>T	XP_024306411.1:p.Pro1210=
NM_001005862.3:c.3492C>T	NP_001005862.1:p.Pro1164=
NM_001289936.2:c.3537C>T	NP_001276865.1:p.Pro1179=
NM_001289937.2:c.*161C>T	NP_001276866.1:n.*161C>T
NM_001382782.1:c.3492C>T	NP_001369711.1:p.Pro1164=
NM_001382783.1:c.3492C>T	NP_001369712.1:p.Pro1164=
NM_001382784.1:c.3699C>T	NP_001369713.1:p.Pro1233=
NM_001382785.1:c.3684C>T	NP_001369714.1:p.Pro1228=
NM_001382786.1:c.3663C>T	NP_001369715.1:p.Pro1221=
NM_001382787.1:c.3657C>T	NP_001369716.1:p.Pro1219=
NM_001382788.1:c.3612C>T	NP_001369717.1:p.Pro1204=
NM_001382789.1:c.3603C>T	NP_001369718.1:p.Pro1201=
NM_001382790.1:c.3579C>T	NP_001369719.1:p.Pro1193=
NM_001382791.1:c.3573C>T	NP_001369720.1:p.Pro1191=
NM_001382792.1:c.3546C>T	NP_001369721.1:p.Pro1182=
NM_001382793.1:c.3540C>T	NP_001369722.1:p.Pro1180=
NM_001382794.1:c.3540C>T	NP_001369723.1:p.Pro1180=
NM_001382795.1:c.3534C>T	NP_001369724.1:p.Pro1178=
NM_001382796.1:c.3495C>T	NP_001369725.1:p.Pro1165=
NM_001382797.1:c.3483C>T	NP_001369726.1:p.Pro1161=
NM_001382798.1:c.3426C>T	NP_001369727.1:p.Pro1142=
NM_001382799.1:c.3402C>T	NP_001369728.1:p.Pro1134=
NM_001382800.1:c.3396C>T	NP_001369729.1:p.Pro1132=
NM_001382801.1:c.3378C>T	NP_001369730.1:p.Pro1126=
NM_001382802.1:c.3324C>T	NP_001369731.1:p.Pro1108=
NM_001382803.1:c.*161C>T	NP_001369732.1:n.*161C>T
NM_001382804.1:c.2754C>T	NP_001369733.1:p.Pro918=
NM_001382805.1:c.2631C>T	NP_001369734.1:p.Pro877=
NM_001382806.1:c.2544C>T	NP_001369735.1:p.Pro848=
NM_004448.4:c.3582C>T MANE Select	NP_004439.2:p.Pro1194=
NR_110535.2:n.3820C>T