Canonical Allele Identifier: CA399310415

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37883620T>G (hg19) ; chr17:g.39727367T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727367T>G , CM000679.2:g.39727367T>G	GRCh38
NC_000017.10:g.37883620T>G , CM000679.1:g.37883620T>G	GRCh37
NC_000017.9:g.35137146T>G	NCBI36
NG_007503.1:g.44228T>G , LRG_724:g.44228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3232T>G MANE Select	ENSP00000269571.4:p.Ser1078Ala
ENST00000269571.9:c.3232T>G	ENSP00000269571.4:p.Ser1078Ala
ENST00000406381.6:c.3142T>G	ENSP00000385185.2:p.Ser1048Ala
ENST00000445658.6:c.2404T>G	ENSP00000404047.2:p.Ser802Ala
ENST00000541774.5:c.3187T>G	ENSP00000446466.1:p.Ser1063Ala
ENST00000578373.5:c.*3022T>G	ENSP00000463427.1:n.*3022T>G
ENST00000584450.5:c.3160-322T>G	ENSP00000463714.1:n.3160-322T>G
ENST00000584601.5:c.3142T>G	ENSP00000462438.1:p.Ser1048Ala
NM_001005862.2:c.3142T>G , LRG_724t1:c.3142T>G	NP_001005862.1:p.Ser1048Ala
NM_001289936.1:c.3187T>G , LRG_724t4:c.3187T>G	NP_001276865.1:p.Ser1063Ala
NM_001289937.1:c.3160-322T>G	NP_001276866.1:n.3160-322T>G
NM_004448.3:c.3232T>G , LRG_724t2:c.3232T>G	NP_004439.2:p.Ser1078Ala
NR_110535.1:n.3556T>G
XM_024450641.1:c.3370T>G	XP_024306409.1:p.Ser1124Ala
XM_024450642.1:c.3325T>G	XP_024306410.1:p.Ser1109Ala
XM_024450643.1:c.3280T>G	XP_024306411.1:p.Ser1094Ala
NM_001005862.3:c.3142T>G	NP_001005862.1:p.Ser1048Ala
NM_001289936.2:c.3187T>G	NP_001276865.1:p.Ser1063Ala
NM_001289937.2:c.3160-322T>G	NP_001276866.1:n.3160-322T>G
NM_001382782.1:c.3142T>G	NP_001369711.1:p.Ser1048Ala
NM_001382783.1:c.3142T>G	NP_001369712.1:p.Ser1048Ala
NM_001382784.1:c.3349T>G	NP_001369713.1:p.Ser1117Ala
NM_001382785.1:c.3334T>G	NP_001369714.1:p.Ser1112Ala
NM_001382786.1:c.3313T>G	NP_001369715.1:p.Ser1105Ala
NM_001382787.1:c.3307T>G	NP_001369716.1:p.Ser1103Ala
NM_001382788.1:c.3262T>G	NP_001369717.1:p.Ser1088Ala
NM_001382789.1:c.3253T>G	NP_001369718.1:p.Ser1085Ala
NM_001382790.1:c.3229T>G	NP_001369719.1:p.Ser1077Ala
NM_001382791.1:c.3223T>G	NP_001369720.1:p.Ser1075Ala
NM_001382792.1:c.3196T>G	NP_001369721.1:p.Ser1066Ala
NM_001382793.1:c.3190T>G	NP_001369722.1:p.Ser1064Ala
NM_001382794.1:c.3190T>G	NP_001369723.1:p.Ser1064Ala
NM_001382795.1:c.3184T>G	NP_001369724.1:p.Ser1062Ala
NM_001382796.1:c.3145T>G	NP_001369725.1:p.Ser1049Ala
NM_001382797.1:c.3133T>G	NP_001369726.1:p.Ser1045Ala
NM_001382798.1:c.3076T>G	NP_001369727.1:p.Ser1026Ala
NM_001382799.1:c.3052T>G	NP_001369728.1:p.Ser1018Ala
NM_001382800.1:c.3046T>G	NP_001369729.1:p.Ser1016Ala
NM_001382801.1:c.3028T>G	NP_001369730.1:p.Ser1010Ala
NM_001382802.1:c.2974T>G	NP_001369731.1:p.Ser992Ala
NM_001382803.1:c.3118-322T>G	NP_001369732.1:n.3118-322T>G
NM_001382804.1:c.2404T>G	NP_001369733.1:p.Ser802Ala
NM_001382805.1:c.2281T>G	NP_001369734.1:p.Ser761Ala
NM_001382806.1:c.2194T>G	NP_001369735.1:p.Ser732Ala
NM_004448.4:c.3232T>G MANE Select	NP_004439.2:p.Ser1078Ala
NR_110535.2:n.3470T>G