Canonical Allele Identifier: CA399312893

Gene: ERBB2

Linked Data

• dbSNP Id: rs562773948
• gnomAD v4: 17-39727724-C-T
• MyVariant Identifiers: chr17:g.37883977C>T (hg19) ; chr17:g.39727724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727724C>T , CM000679.2:g.39727724C>T	GRCh38
NC_000017.10:g.37883977C>T , CM000679.1:g.37883977C>T	GRCh37
NC_000017.9:g.35137503C>T	NCBI36
NG_007503.1:g.44585C>T , LRG_724:g.44585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3448C>T MANE Select	ENSP00000269571.4:p.Pro1150Ser
ENST00000269571.9:c.3448C>T	ENSP00000269571.4:p.Pro1150Ser
ENST00000406381.6:c.3358C>T	ENSP00000385185.2:p.Pro1120Ser
ENST00000445658.6:c.2620C>T	ENSP00000404047.2:p.Pro874Ser
ENST00000541774.5:c.3403C>T	ENSP00000446466.1:p.Pro1135Ser
ENST00000578373.5:c.*3238C>T	ENSP00000463427.1:n.*3238C>T
ENST00000584450.5:c.*27C>T	ENSP00000463714.1:n.*27C>T
ENST00000584601.5:c.3358C>T	ENSP00000462438.1:p.Pro1120Ser
NM_001005862.2:c.3358C>T , LRG_724t1:c.3358C>T	NP_001005862.1:p.Pro1120Ser
NM_001289936.1:c.3403C>T , LRG_724t4:c.3403C>T	NP_001276865.1:p.Pro1135Ser
NM_001289937.1:c.*27C>T	NP_001276866.1:n.*27C>T
NM_004448.3:c.3448C>T , LRG_724t2:c.3448C>T	NP_004439.2:p.Pro1150Ser
NR_110535.1:n.3772C>T
XM_024450641.1:c.3586C>T	XP_024306409.1:p.Pro1196Ser
XM_024450642.1:c.3541C>T	XP_024306410.1:p.Pro1181Ser
XM_024450643.1:c.3496C>T	XP_024306411.1:p.Pro1166Ser
NM_001005862.3:c.3358C>T	NP_001005862.1:p.Pro1120Ser
NM_001289936.2:c.3403C>T	NP_001276865.1:p.Pro1135Ser
NM_001289937.2:c.*27C>T	NP_001276866.1:n.*27C>T
NM_001382782.1:c.3358C>T	NP_001369711.1:p.Pro1120Ser
NM_001382783.1:c.3358C>T	NP_001369712.1:p.Pro1120Ser
NM_001382784.1:c.3565C>T	NP_001369713.1:p.Pro1189Ser
NM_001382785.1:c.3550C>T	NP_001369714.1:p.Pro1184Ser
NM_001382786.1:c.3529C>T	NP_001369715.1:p.Pro1177Ser
NM_001382787.1:c.3523C>T	NP_001369716.1:p.Pro1175Ser
NM_001382788.1:c.3478C>T	NP_001369717.1:p.Pro1160Ser
NM_001382789.1:c.3469C>T	NP_001369718.1:p.Pro1157Ser
NM_001382790.1:c.3445C>T	NP_001369719.1:p.Pro1149Ser
NM_001382791.1:c.3439C>T	NP_001369720.1:p.Pro1147Ser
NM_001382792.1:c.3412C>T	NP_001369721.1:p.Pro1138Ser
NM_001382793.1:c.3406C>T	NP_001369722.1:p.Pro1136Ser
NM_001382794.1:c.3406C>T	NP_001369723.1:p.Pro1136Ser
NM_001382795.1:c.3400C>T	NP_001369724.1:p.Pro1134Ser
NM_001382796.1:c.3361C>T	NP_001369725.1:p.Pro1121Ser
NM_001382797.1:c.3349C>T	NP_001369726.1:p.Pro1117Ser
NM_001382798.1:c.3292C>T	NP_001369727.1:p.Pro1098Ser
NM_001382799.1:c.3268C>T	NP_001369728.1:p.Pro1090Ser
NM_001382800.1:c.3262C>T	NP_001369729.1:p.Pro1088Ser
NM_001382801.1:c.3244C>T	NP_001369730.1:p.Pro1082Ser
NM_001382802.1:c.3190C>T	NP_001369731.1:p.Pro1064Ser
NM_001382803.1:c.*27C>T	NP_001369732.1:n.*27C>T
NM_001382804.1:c.2620C>T	NP_001369733.1:p.Pro874Ser
NM_001382805.1:c.2497C>T	NP_001369734.1:p.Pro833Ser
NM_001382806.1:c.2410C>T	NP_001369735.1:p.Pro804Ser
NM_004448.4:c.3448C>T MANE Select	NP_004439.2:p.Pro1150Ser
NR_110535.2:n.3686C>T