Canonical Allele Identifier: CA8534505

Gene: ERBB2

Linked Data

• dbSNP Id: rs765456216
• ExAC: 17:37883617 C / G
• gnomAD v2: 17-37883617-C-G
• MyVariant Identifiers: chr17:g.37883617C>G (hg19) ; chr17:g.39727364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727364C>G , CM000679.2:g.39727364C>G	GRCh38
NC_000017.10:g.37883617C>G , CM000679.1:g.37883617C>G	GRCh37
NC_000017.9:g.35137143C>G	NCBI36
NG_007503.1:g.44225C>G , LRG_724:g.44225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3229C>G MANE Select	ENSP00000269571.4:p.Pro1077Ala
ENST00000269571.9:c.3229C>G	ENSP00000269571.4:p.Pro1077Ala
ENST00000406381.6:c.3139C>G	ENSP00000385185.2:p.Pro1047Ala
ENST00000445658.6:c.2401C>G	ENSP00000404047.2:p.Pro801Ala
ENST00000541774.5:c.3184C>G	ENSP00000446466.1:p.Pro1062Ala
ENST00000578373.5:c.*3019C>G	ENSP00000463427.1:n.*3019C>G
ENST00000584450.5:c.3160-325C>G	ENSP00000463714.1:n.3160-325C>G
ENST00000584601.5:c.3139C>G	ENSP00000462438.1:p.Pro1047Ala
NM_001005862.2:c.3139C>G , LRG_724t1:c.3139C>G	NP_001005862.1:p.Pro1047Ala
NM_001289936.1:c.3184C>G , LRG_724t4:c.3184C>G	NP_001276865.1:p.Pro1062Ala
NM_001289937.1:c.3160-325C>G	NP_001276866.1:n.3160-325C>G
NM_004448.3:c.3229C>G , LRG_724t2:c.3229C>G	NP_004439.2:p.Pro1077Ala
NR_110535.1:n.3553C>G
XM_024450641.1:c.3367C>G	XP_024306409.1:p.Pro1123Ala
XM_024450642.1:c.3322C>G	XP_024306410.1:p.Pro1108Ala
XM_024450643.1:c.3277C>G	XP_024306411.1:p.Pro1093Ala
NM_001005862.3:c.3139C>G	NP_001005862.1:p.Pro1047Ala
NM_001289936.2:c.3184C>G	NP_001276865.1:p.Pro1062Ala
NM_001289937.2:c.3160-325C>G	NP_001276866.1:n.3160-325C>G
NM_001382782.1:c.3139C>G	NP_001369711.1:p.Pro1047Ala
NM_001382783.1:c.3139C>G	NP_001369712.1:p.Pro1047Ala
NM_001382784.1:c.3346C>G	NP_001369713.1:p.Pro1116Ala
NM_001382785.1:c.3331C>G	NP_001369714.1:p.Pro1111Ala
NM_001382786.1:c.3310C>G	NP_001369715.1:p.Pro1104Ala
NM_001382787.1:c.3304C>G	NP_001369716.1:p.Pro1102Ala
NM_001382788.1:c.3259C>G	NP_001369717.1:p.Pro1087Ala
NM_001382789.1:c.3250C>G	NP_001369718.1:p.Pro1084Ala
NM_001382790.1:c.3226C>G	NP_001369719.1:p.Pro1076Ala
NM_001382791.1:c.3220C>G	NP_001369720.1:p.Pro1074Ala
NM_001382792.1:c.3193C>G	NP_001369721.1:p.Pro1065Ala
NM_001382793.1:c.3187C>G	NP_001369722.1:p.Pro1063Ala
NM_001382794.1:c.3187C>G	NP_001369723.1:p.Pro1063Ala
NM_001382795.1:c.3181C>G	NP_001369724.1:p.Pro1061Ala
NM_001382796.1:c.3142C>G	NP_001369725.1:p.Pro1048Ala
NM_001382797.1:c.3130C>G	NP_001369726.1:p.Pro1044Ala
NM_001382798.1:c.3073C>G	NP_001369727.1:p.Pro1025Ala
NM_001382799.1:c.3049C>G	NP_001369728.1:p.Pro1017Ala
NM_001382800.1:c.3043C>G	NP_001369729.1:p.Pro1015Ala
NM_001382801.1:c.3025C>G	NP_001369730.1:p.Pro1009Ala
NM_001382802.1:c.2971C>G	NP_001369731.1:p.Pro991Ala
NM_001382803.1:c.3118-325C>G	NP_001369732.1:n.3118-325C>G
NM_001382804.1:c.2401C>G	NP_001369733.1:p.Pro801Ala
NM_001382805.1:c.2278C>G	NP_001369734.1:p.Pro760Ala
NM_001382806.1:c.2191C>G	NP_001369735.1:p.Pro731Ala
NM_004448.4:c.3229C>G MANE Select	NP_004439.2:p.Pro1077Ala
NR_110535.2:n.3467C>G