Canonical Allele Identifier: CA399312611

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37883734C>A (hg19) ; chr17:g.39727481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727481C>A , CM000679.2:g.39727481C>A	GRCh38
NC_000017.10:g.37883734C>A , CM000679.1:g.37883734C>A	GRCh37
NC_000017.9:g.35137260C>A	NCBI36
NG_007503.1:g.44342C>A , LRG_724:g.44342C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3346C>A MANE Select	ENSP00000269571.4:p.Pro1116Thr
ENST00000269571.9:c.3346C>A	ENSP00000269571.4:p.Pro1116Thr
ENST00000406381.6:c.3256C>A	ENSP00000385185.2:p.Pro1086Thr
ENST00000445658.6:c.2518C>A	ENSP00000404047.2:p.Pro840Thr
ENST00000541774.5:c.3301C>A	ENSP00000446466.1:p.Pro1101Thr
ENST00000578373.5:c.*3136C>A	ENSP00000463427.1:n.*3136C>A
ENST00000584450.5:c.3160-208C>A	ENSP00000463714.1:n.3160-208C>A
ENST00000584601.5:c.3256C>A	ENSP00000462438.1:p.Pro1086Thr
NM_001005862.2:c.3256C>A , LRG_724t1:c.3256C>A	NP_001005862.1:p.Pro1086Thr
NM_001289936.1:c.3301C>A , LRG_724t4:c.3301C>A	NP_001276865.1:p.Pro1101Thr
NM_001289937.1:c.3160-208C>A	NP_001276866.1:n.3160-208C>A
NM_004448.3:c.3346C>A , LRG_724t2:c.3346C>A	NP_004439.2:p.Pro1116Thr
NR_110535.1:n.3670C>A
XM_024450641.1:c.3484C>A	XP_024306409.1:p.Pro1162Thr
XM_024450642.1:c.3439C>A	XP_024306410.1:p.Pro1147Thr
XM_024450643.1:c.3394C>A	XP_024306411.1:p.Pro1132Thr
NM_001005862.3:c.3256C>A	NP_001005862.1:p.Pro1086Thr
NM_001289936.2:c.3301C>A	NP_001276865.1:p.Pro1101Thr
NM_001289937.2:c.3160-208C>A	NP_001276866.1:n.3160-208C>A
NM_001382782.1:c.3256C>A	NP_001369711.1:p.Pro1086Thr
NM_001382783.1:c.3256C>A	NP_001369712.1:p.Pro1086Thr
NM_001382784.1:c.3463C>A	NP_001369713.1:p.Pro1155Thr
NM_001382785.1:c.3448C>A	NP_001369714.1:p.Pro1150Thr
NM_001382786.1:c.3427C>A	NP_001369715.1:p.Pro1143Thr
NM_001382787.1:c.3421C>A	NP_001369716.1:p.Pro1141Thr
NM_001382788.1:c.3376C>A	NP_001369717.1:p.Pro1126Thr
NM_001382789.1:c.3367C>A	NP_001369718.1:p.Pro1123Thr
NM_001382790.1:c.3343C>A	NP_001369719.1:p.Pro1115Thr
NM_001382791.1:c.3337C>A	NP_001369720.1:p.Pro1113Thr
NM_001382792.1:c.3310C>A	NP_001369721.1:p.Pro1104Thr
NM_001382793.1:c.3304C>A	NP_001369722.1:p.Pro1102Thr
NM_001382794.1:c.3304C>A	NP_001369723.1:p.Pro1102Thr
NM_001382795.1:c.3298C>A	NP_001369724.1:p.Pro1100Thr
NM_001382796.1:c.3259C>A	NP_001369725.1:p.Pro1087Thr
NM_001382797.1:c.3247C>A	NP_001369726.1:p.Pro1083Thr
NM_001382798.1:c.3190C>A	NP_001369727.1:p.Pro1064Thr
NM_001382799.1:c.3166C>A	NP_001369728.1:p.Pro1056Thr
NM_001382800.1:c.3160C>A	NP_001369729.1:p.Pro1054Thr
NM_001382801.1:c.3142C>A	NP_001369730.1:p.Pro1048Thr
NM_001382802.1:c.3088C>A	NP_001369731.1:p.Pro1030Thr
NM_001382803.1:c.3118-208C>A	NP_001369732.1:n.3118-208C>A
NM_001382804.1:c.2518C>A	NP_001369733.1:p.Pro840Thr
NM_001382805.1:c.2395C>A	NP_001369734.1:p.Pro799Thr
NM_001382806.1:c.2308C>A	NP_001369735.1:p.Pro770Thr
NM_004448.4:c.3346C>A MANE Select	NP_004439.2:p.Pro1116Thr
NR_110535.2:n.3584C>A