Canonical Allele Identifier: CA399312975

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143292339
• gnomAD v4: 17-39727748-C-T
• MyVariant Identifiers: chr17:g.37884001C>T (hg19) ; chr17:g.39727748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727748C>T , CM000679.2:g.39727748C>T	GRCh38
NC_000017.10:g.37884001C>T , CM000679.1:g.37884001C>T	GRCh37
NC_000017.9:g.35137527C>T	NCBI36
NG_007503.1:g.44609C>T , LRG_724:g.44609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3472C>T MANE Select	ENSP00000269571.4:p.Pro1158Ser
ENST00000269571.9:c.3472C>T	ENSP00000269571.4:p.Pro1158Ser
ENST00000406381.6:c.3382C>T	ENSP00000385185.2:p.Pro1128Ser
ENST00000445658.6:c.2644C>T	ENSP00000404047.2:p.Pro882Ser
ENST00000541774.5:c.3427C>T	ENSP00000446466.1:p.Pro1143Ser
ENST00000578373.5:c.*3262C>T	ENSP00000463427.1:n.*3262C>T
ENST00000584450.5:c.*51C>T	ENSP00000463714.1:n.*51C>T
ENST00000584601.5:c.3382C>T	ENSP00000462438.1:p.Pro1128Ser
NM_001005862.2:c.3382C>T , LRG_724t1:c.3382C>T	NP_001005862.1:p.Pro1128Ser
NM_001289936.1:c.3427C>T , LRG_724t4:c.3427C>T	NP_001276865.1:p.Pro1143Ser
NM_001289937.1:c.*51C>T	NP_001276866.1:n.*51C>T
NM_004448.3:c.3472C>T , LRG_724t2:c.3472C>T	NP_004439.2:p.Pro1158Ser
NR_110535.1:n.3796C>T
XM_024450641.1:c.3610C>T	XP_024306409.1:p.Pro1204Ser
XM_024450642.1:c.3565C>T	XP_024306410.1:p.Pro1189Ser
XM_024450643.1:c.3520C>T	XP_024306411.1:p.Pro1174Ser
NM_001005862.3:c.3382C>T	NP_001005862.1:p.Pro1128Ser
NM_001289936.2:c.3427C>T	NP_001276865.1:p.Pro1143Ser
NM_001289937.2:c.*51C>T	NP_001276866.1:n.*51C>T
NM_001382782.1:c.3382C>T	NP_001369711.1:p.Pro1128Ser
NM_001382783.1:c.3382C>T	NP_001369712.1:p.Pro1128Ser
NM_001382784.1:c.3589C>T	NP_001369713.1:p.Pro1197Ser
NM_001382785.1:c.3574C>T	NP_001369714.1:p.Pro1192Ser
NM_001382786.1:c.3553C>T	NP_001369715.1:p.Pro1185Ser
NM_001382787.1:c.3547C>T	NP_001369716.1:p.Pro1183Ser
NM_001382788.1:c.3502C>T	NP_001369717.1:p.Pro1168Ser
NM_001382789.1:c.3493C>T	NP_001369718.1:p.Pro1165Ser
NM_001382790.1:c.3469C>T	NP_001369719.1:p.Pro1157Ser
NM_001382791.1:c.3463C>T	NP_001369720.1:p.Pro1155Ser
NM_001382792.1:c.3436C>T	NP_001369721.1:p.Pro1146Ser
NM_001382793.1:c.3430C>T	NP_001369722.1:p.Pro1144Ser
NM_001382794.1:c.3430C>T	NP_001369723.1:p.Pro1144Ser
NM_001382795.1:c.3424C>T	NP_001369724.1:p.Pro1142Ser
NM_001382796.1:c.3385C>T	NP_001369725.1:p.Pro1129Ser
NM_001382797.1:c.3373C>T	NP_001369726.1:p.Pro1125Ser
NM_001382798.1:c.3316C>T	NP_001369727.1:p.Pro1106Ser
NM_001382799.1:c.3292C>T	NP_001369728.1:p.Pro1098Ser
NM_001382800.1:c.3286C>T	NP_001369729.1:p.Pro1096Ser
NM_001382801.1:c.3268C>T	NP_001369730.1:p.Pro1090Ser
NM_001382802.1:c.3214C>T	NP_001369731.1:p.Pro1072Ser
NM_001382803.1:c.*51C>T	NP_001369732.1:n.*51C>T
NM_001382804.1:c.2644C>T	NP_001369733.1:p.Pro882Ser
NM_001382805.1:c.2521C>T	NP_001369734.1:p.Pro841Ser
NM_001382806.1:c.2434C>T	NP_001369735.1:p.Pro812Ser
NM_004448.4:c.3472C>T MANE Select	NP_004439.2:p.Pro1158Ser
NR_110535.2:n.3710C>T