Canonical Allele Identifier: CA399313739

Gene: ERBB2

Linked Data

• dbSNP Id: rs1405687941
• gnomAD v2: 17-37884109-C-T
• gnomAD v4: 17-39727856-C-T
• MyVariant Identifiers: chr17:g.37884109C>T (hg19) ; chr17:g.39727856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727856C>T , CM000679.2:g.39727856C>T	GRCh38
NC_000017.10:g.37884109C>T , CM000679.1:g.37884109C>T	GRCh37
NC_000017.9:g.35137635C>T	NCBI36
NG_007503.1:g.44717C>T , LRG_724:g.44717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3580C>T MANE Select	ENSP00000269571.4:p.Pro1194Ser
ENST00000269571.9:c.3580C>T	ENSP00000269571.4:p.Pro1194Ser
ENST00000406381.6:c.3490C>T	ENSP00000385185.2:p.Pro1164Ser
ENST00000445658.6:c.2752C>T	ENSP00000404047.2:p.Pro918Ser
ENST00000541774.5:c.3535C>T	ENSP00000446466.1:p.Pro1179Ser
ENST00000578373.5:c.*3370C>T	ENSP00000463427.1:n.*3370C>T
ENST00000584450.5:c.*159C>T	ENSP00000463714.1:n.*159C>T
ENST00000584601.5:c.3490C>T	ENSP00000462438.1:p.Pro1164Ser
NM_001005862.2:c.3490C>T , LRG_724t1:c.3490C>T	NP_001005862.1:p.Pro1164Ser
NM_001289936.1:c.3535C>T , LRG_724t4:c.3535C>T	NP_001276865.1:p.Pro1179Ser
NM_001289937.1:c.*159C>T	NP_001276866.1:n.*159C>T
NM_004448.3:c.3580C>T , LRG_724t2:c.3580C>T	NP_004439.2:p.Pro1194Ser
NR_110535.1:n.3904C>T
XM_024450641.1:c.3718C>T	XP_024306409.1:p.Pro1240Ser
XM_024450642.1:c.3673C>T	XP_024306410.1:p.Pro1225Ser
XM_024450643.1:c.3628C>T	XP_024306411.1:p.Pro1210Ser
NM_001005862.3:c.3490C>T	NP_001005862.1:p.Pro1164Ser
NM_001289936.2:c.3535C>T	NP_001276865.1:p.Pro1179Ser
NM_001289937.2:c.*159C>T	NP_001276866.1:n.*159C>T
NM_001382782.1:c.3490C>T	NP_001369711.1:p.Pro1164Ser
NM_001382783.1:c.3490C>T	NP_001369712.1:p.Pro1164Ser
NM_001382784.1:c.3697C>T	NP_001369713.1:p.Pro1233Ser
NM_001382785.1:c.3682C>T	NP_001369714.1:p.Pro1228Ser
NM_001382786.1:c.3661C>T	NP_001369715.1:p.Pro1221Ser
NM_001382787.1:c.3655C>T	NP_001369716.1:p.Pro1219Ser
NM_001382788.1:c.3610C>T	NP_001369717.1:p.Pro1204Ser
NM_001382789.1:c.3601C>T	NP_001369718.1:p.Pro1201Ser
NM_001382790.1:c.3577C>T	NP_001369719.1:p.Pro1193Ser
NM_001382791.1:c.3571C>T	NP_001369720.1:p.Pro1191Ser
NM_001382792.1:c.3544C>T	NP_001369721.1:p.Pro1182Ser
NM_001382793.1:c.3538C>T	NP_001369722.1:p.Pro1180Ser
NM_001382794.1:c.3538C>T	NP_001369723.1:p.Pro1180Ser
NM_001382795.1:c.3532C>T	NP_001369724.1:p.Pro1178Ser
NM_001382796.1:c.3493C>T	NP_001369725.1:p.Pro1165Ser
NM_001382797.1:c.3481C>T	NP_001369726.1:p.Pro1161Ser
NM_001382798.1:c.3424C>T	NP_001369727.1:p.Pro1142Ser
NM_001382799.1:c.3400C>T	NP_001369728.1:p.Pro1134Ser
NM_001382800.1:c.3394C>T	NP_001369729.1:p.Pro1132Ser
NM_001382801.1:c.3376C>T	NP_001369730.1:p.Pro1126Ser
NM_001382802.1:c.3322C>T	NP_001369731.1:p.Pro1108Ser
NM_001382803.1:c.*159C>T	NP_001369732.1:n.*159C>T
NM_001382804.1:c.2752C>T	NP_001369733.1:p.Pro918Ser
NM_001382805.1:c.2629C>T	NP_001369734.1:p.Pro877Ser
NM_001382806.1:c.2542C>T	NP_001369735.1:p.Pro848Ser
NM_004448.4:c.3580C>T MANE Select	NP_004439.2:p.Pro1194Ser
NR_110535.2:n.3818C>T