Canonical Allele Identifier: CA399303258

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145850516
• MyVariant Identifiers: chr17:g.37881067A>T (hg19) ; chr17:g.39724814A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724814A>T , CM000679.2:g.39724814A>T	GRCh38
NC_000017.10:g.37881067A>T , CM000679.1:g.37881067A>T	GRCh37
NC_000017.9:g.35134593A>T	NCBI36
NG_007503.1:g.41675A>T , LRG_724:g.41675A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2396A>T MANE Select	ENSP00000269571.4:p.Gln799Leu
ENST00000269571.9:c.2396A>T	ENSP00000269571.4:p.Gln799Leu
ENST00000406381.6:c.2306A>T	ENSP00000385185.2:p.Gln769Leu
ENST00000445658.6:c.1568A>T	ENSP00000404047.2:p.Gln523Leu
ENST00000541774.5:c.2351A>T	ENSP00000446466.1:p.Gln784Leu
ENST00000578373.5:c.*2186A>T	ENSP00000463427.1:n.*2186A>T
ENST00000580074.1:c.502A>T
ENST00000583038.5:n.3530A>T
ENST00000584450.5:c.2396A>T	ENSP00000463714.1:p.Gln799Leu
ENST00000584601.5:c.2306A>T	ENSP00000462438.1:p.Gln769Leu
NM_001005862.2:c.2306A>T , LRG_724t1:c.2306A>T	NP_001005862.1:p.Gln769Leu
NM_001289936.1:c.2351A>T , LRG_724t4:c.2351A>T	NP_001276865.1:p.Gln784Leu
NM_001289937.1:c.2396A>T	NP_001276866.1:p.Gln799Leu
NM_004448.3:c.2396A>T , LRG_724t2:c.2396A>T	NP_004439.2:p.Gln799Leu
NR_110535.1:n.2720A>T
XM_024450641.1:c.2534A>T	XP_024306409.1:p.Gln845Leu
XM_024450642.1:c.2489A>T	XP_024306410.1:p.Gln830Leu
XM_024450643.1:c.2444A>T	XP_024306411.1:p.Gln815Leu
NM_001005862.3:c.2306A>T	NP_001005862.1:p.Gln769Leu
NM_001289936.2:c.2351A>T	NP_001276865.1:p.Gln784Leu
NM_001289937.2:c.2396A>T	NP_001276866.1:p.Gln799Leu
NM_001382782.1:c.2306A>T	NP_001369711.1:p.Gln769Leu
NM_001382783.1:c.2306A>T	NP_001369712.1:p.Gln769Leu
NM_001382784.1:c.2513A>T	NP_001369713.1:p.Gln838Leu
NM_001382785.1:c.2498A>T	NP_001369714.1:p.Gln833Leu
NM_001382786.1:c.2477A>T	NP_001369715.1:p.Gln826Leu
NM_001382787.1:c.2471A>T	NP_001369716.1:p.Gln824Leu
NM_001382788.1:c.2426A>T	NP_001369717.1:p.Gln809Leu
NM_001382789.1:c.2417A>T	NP_001369718.1:p.Gln806Leu
NM_001382790.1:c.2393A>T	NP_001369719.1:p.Gln798Leu
NM_001382791.1:c.2387A>T	NP_001369720.1:p.Gln796Leu
NM_001382792.1:c.2360A>T	NP_001369721.1:p.Gln787Leu
NM_001382793.1:c.2354A>T	NP_001369722.1:p.Gln785Leu
NM_001382794.1:c.2354A>T	NP_001369723.1:p.Gln785Leu
NM_001382795.1:c.2348A>T	NP_001369724.1:p.Gln783Leu
NM_001382796.1:c.2396A>T	NP_001369725.1:p.Gln799Leu
NM_001382797.1:c.2297A>T	NP_001369726.1:p.Gln766Leu
NM_001382798.1:c.2396A>T	NP_001369727.1:p.Gln799Leu
NM_001382799.1:c.2216A>T	NP_001369728.1:p.Gln739Leu
NM_001382800.1:c.2308-235A>T	NP_001369729.1:n.2308-235A>T
NM_001382801.1:c.2348A>T	NP_001369730.1:p.Gln783Leu
NM_001382802.1:c.2138A>T	NP_001369731.1:p.Gln713Leu
NM_001382803.1:c.2354A>T	NP_001369732.1:p.Gln785Leu
NM_001382804.1:c.1568A>T	NP_001369733.1:p.Gln523Leu
NM_001382805.1:c.2208+1154A>T	NP_001369734.1:n.2208+1154A>T
NM_001382806.1:c.1358A>T	NP_001369735.1:p.Gln453Leu
NM_004448.4:c.2396A>T MANE Select	NP_004439.2:p.Gln799Leu
NR_110535.2:n.2634A>T