Canonical Allele Identifier: CA399312668

Gene: ERBB2

Linked Data

• dbSNP Id: rs1367219861
• gnomAD v3: 17-39727497-C-G
• gnomAD v4: 17-39727497-C-G
• MyVariant Identifiers: chr17:g.37883750C>G (hg19) ; chr17:g.39727497C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727497C>G , CM000679.2:g.39727497C>G	GRCh38
NC_000017.10:g.37883750C>G , CM000679.1:g.37883750C>G	GRCh37
NC_000017.9:g.35137276C>G	NCBI36
NG_007503.1:g.44358C>G , LRG_724:g.44358C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3362C>G MANE Select	ENSP00000269571.4:p.Pro1121Arg
ENST00000269571.9:c.3362C>G	ENSP00000269571.4:p.Pro1121Arg
ENST00000406381.6:c.3272C>G	ENSP00000385185.2:p.Pro1091Arg
ENST00000445658.6:c.2534C>G	ENSP00000404047.2:p.Pro845Arg
ENST00000541774.5:c.3317C>G	ENSP00000446466.1:p.Pro1106Arg
ENST00000578373.5:c.*3152C>G	ENSP00000463427.1:n.*3152C>G
ENST00000584450.5:c.3160-192C>G	ENSP00000463714.1:n.3160-192C>G
ENST00000584601.5:c.3272C>G	ENSP00000462438.1:p.Pro1091Arg
NM_001005862.2:c.3272C>G , LRG_724t1:c.3272C>G	NP_001005862.1:p.Pro1091Arg
NM_001289936.1:c.3317C>G , LRG_724t4:c.3317C>G	NP_001276865.1:p.Pro1106Arg
NM_001289937.1:c.3160-192C>G	NP_001276866.1:n.3160-192C>G
NM_004448.3:c.3362C>G , LRG_724t2:c.3362C>G	NP_004439.2:p.Pro1121Arg
NR_110535.1:n.3686C>G
XM_024450641.1:c.3500C>G	XP_024306409.1:p.Pro1167Arg
XM_024450642.1:c.3455C>G	XP_024306410.1:p.Pro1152Arg
XM_024450643.1:c.3410C>G	XP_024306411.1:p.Pro1137Arg
NM_001005862.3:c.3272C>G	NP_001005862.1:p.Pro1091Arg
NM_001289936.2:c.3317C>G	NP_001276865.1:p.Pro1106Arg
NM_001289937.2:c.3160-192C>G	NP_001276866.1:n.3160-192C>G
NM_001382782.1:c.3272C>G	NP_001369711.1:p.Pro1091Arg
NM_001382783.1:c.3272C>G	NP_001369712.1:p.Pro1091Arg
NM_001382784.1:c.3479C>G	NP_001369713.1:p.Pro1160Arg
NM_001382785.1:c.3464C>G	NP_001369714.1:p.Pro1155Arg
NM_001382786.1:c.3443C>G	NP_001369715.1:p.Pro1148Arg
NM_001382787.1:c.3437C>G	NP_001369716.1:p.Pro1146Arg
NM_001382788.1:c.3392C>G	NP_001369717.1:p.Pro1131Arg
NM_001382789.1:c.3383C>G	NP_001369718.1:p.Pro1128Arg
NM_001382790.1:c.3359C>G	NP_001369719.1:p.Pro1120Arg
NM_001382791.1:c.3353C>G	NP_001369720.1:p.Pro1118Arg
NM_001382792.1:c.3326C>G	NP_001369721.1:p.Pro1109Arg
NM_001382793.1:c.3320C>G	NP_001369722.1:p.Pro1107Arg
NM_001382794.1:c.3320C>G	NP_001369723.1:p.Pro1107Arg
NM_001382795.1:c.3314C>G	NP_001369724.1:p.Pro1105Arg
NM_001382796.1:c.3275C>G	NP_001369725.1:p.Pro1092Arg
NM_001382797.1:c.3263C>G	NP_001369726.1:p.Pro1088Arg
NM_001382798.1:c.3206C>G	NP_001369727.1:p.Pro1069Arg
NM_001382799.1:c.3182C>G	NP_001369728.1:p.Pro1061Arg
NM_001382800.1:c.3176C>G	NP_001369729.1:p.Pro1059Arg
NM_001382801.1:c.3158C>G	NP_001369730.1:p.Pro1053Arg
NM_001382802.1:c.3104C>G	NP_001369731.1:p.Pro1035Arg
NM_001382803.1:c.3118-192C>G	NP_001369732.1:n.3118-192C>G
NM_001382804.1:c.2534C>G	NP_001369733.1:p.Pro845Arg
NM_001382805.1:c.2411C>G	NP_001369734.1:p.Pro804Arg
NM_001382806.1:c.2324C>G	NP_001369735.1:p.Pro775Arg
NM_004448.4:c.3362C>G MANE Select	NP_004439.2:p.Pro1121Arg
NR_110535.2:n.3600C>G