Canonical Allele Identifier: CA399312854

Gene: ERBB2

Linked Data

• dbSNP Id: rs587778269
• gnomAD v4: 17-39727704-C-G
• MyVariant Identifiers: chr17:g.37883957C>G (hg19) ; chr17:g.39727704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727704C>G , CM000679.2:g.39727704C>G	GRCh38
NC_000017.10:g.37883957C>G , CM000679.1:g.37883957C>G	GRCh37
NC_000017.9:g.35137483C>G	NCBI36
NG_007503.1:g.44565C>G , LRG_724:g.44565C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3428C>G MANE Select	ENSP00000269571.4:p.Pro1143Arg
ENST00000269571.9:c.3428C>G	ENSP00000269571.4:p.Pro1143Arg
ENST00000406381.6:c.3338C>G	ENSP00000385185.2:p.Pro1113Arg
ENST00000445658.6:c.2600C>G	ENSP00000404047.2:p.Pro867Arg
ENST00000541774.5:c.3383C>G	ENSP00000446466.1:p.Pro1128Arg
ENST00000578373.5:c.*3218C>G	ENSP00000463427.1:n.*3218C>G
ENST00000584450.5:c.*7C>G	ENSP00000463714.1:n.*7C>G
ENST00000584601.5:c.3338C>G	ENSP00000462438.1:p.Pro1113Arg
NM_001005862.2:c.3338C>G , LRG_724t1:c.3338C>G	NP_001005862.1:p.Pro1113Arg
NM_001289936.1:c.3383C>G , LRG_724t4:c.3383C>G	NP_001276865.1:p.Pro1128Arg
NM_001289937.1:c.*7C>G	NP_001276866.1:n.*7C>G
NM_004448.3:c.3428C>G , LRG_724t2:c.3428C>G	NP_004439.2:p.Pro1143Arg
NR_110535.1:n.3752C>G
XM_024450641.1:c.3566C>G	XP_024306409.1:p.Pro1189Arg
XM_024450642.1:c.3521C>G	XP_024306410.1:p.Pro1174Arg
XM_024450643.1:c.3476C>G	XP_024306411.1:p.Pro1159Arg
NM_001005862.3:c.3338C>G	NP_001005862.1:p.Pro1113Arg
NM_001289936.2:c.3383C>G	NP_001276865.1:p.Pro1128Arg
NM_001289937.2:c.*7C>G	NP_001276866.1:n.*7C>G
NM_001382782.1:c.3338C>G	NP_001369711.1:p.Pro1113Arg
NM_001382783.1:c.3338C>G	NP_001369712.1:p.Pro1113Arg
NM_001382784.1:c.3545C>G	NP_001369713.1:p.Pro1182Arg
NM_001382785.1:c.3530C>G	NP_001369714.1:p.Pro1177Arg
NM_001382786.1:c.3509C>G	NP_001369715.1:p.Pro1170Arg
NM_001382787.1:c.3503C>G	NP_001369716.1:p.Pro1168Arg
NM_001382788.1:c.3458C>G	NP_001369717.1:p.Pro1153Arg
NM_001382789.1:c.3449C>G	NP_001369718.1:p.Pro1150Arg
NM_001382790.1:c.3425C>G	NP_001369719.1:p.Pro1142Arg
NM_001382791.1:c.3419C>G	NP_001369720.1:p.Pro1140Arg
NM_001382792.1:c.3392C>G	NP_001369721.1:p.Pro1131Arg
NM_001382793.1:c.3386C>G	NP_001369722.1:p.Pro1129Arg
NM_001382794.1:c.3386C>G	NP_001369723.1:p.Pro1129Arg
NM_001382795.1:c.3380C>G	NP_001369724.1:p.Pro1127Arg
NM_001382796.1:c.3341C>G	NP_001369725.1:p.Pro1114Arg
NM_001382797.1:c.3329C>G	NP_001369726.1:p.Pro1110Arg
NM_001382798.1:c.3272C>G	NP_001369727.1:p.Pro1091Arg
NM_001382799.1:c.3248C>G	NP_001369728.1:p.Pro1083Arg
NM_001382800.1:c.3242C>G	NP_001369729.1:p.Pro1081Arg
NM_001382801.1:c.3224C>G	NP_001369730.1:p.Pro1075Arg
NM_001382802.1:c.3170C>G	NP_001369731.1:p.Pro1057Arg
NM_001382803.1:c.*7C>G	NP_001369732.1:n.*7C>G
NM_001382804.1:c.2600C>G	NP_001369733.1:p.Pro867Arg
NM_001382805.1:c.2477C>G	NP_001369734.1:p.Pro826Arg
NM_001382806.1:c.2390C>G	NP_001369735.1:p.Pro797Arg
NM_004448.4:c.3428C>G MANE Select	NP_004439.2:p.Pro1143Arg
NR_110535.2:n.3666C>G