Canonical Allele Identifier: CA399312743

Gene: ERBB2

Linked Data

• dbSNP Id: rs747888253
• MyVariant Identifiers: chr17:g.37883770G>T (hg19) ; chr17:g.39727517G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727517G>T , CM000679.2:g.39727517G>T	GRCh38
NC_000017.10:g.37883770G>T , CM000679.1:g.37883770G>T	GRCh37
NC_000017.9:g.35137296G>T	NCBI36
NG_007503.1:g.44378G>T , LRG_724:g.44378G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3382G>T MANE Select	ENSP00000269571.4:p.Val1128Phe
ENST00000269571.9:c.3382G>T	ENSP00000269571.4:p.Val1128Phe
ENST00000406381.6:c.3292G>T	ENSP00000385185.2:p.Val1098Phe
ENST00000445658.6:c.2554G>T	ENSP00000404047.2:p.Val852Phe
ENST00000541774.5:c.3337G>T	ENSP00000446466.1:p.Val1113Phe
ENST00000578373.5:c.*3172G>T	ENSP00000463427.1:n.*3172G>T
ENST00000584450.5:c.3160-172G>T	ENSP00000463714.1:n.3160-172G>T
ENST00000584601.5:c.3292G>T	ENSP00000462438.1:p.Val1098Phe
NM_001005862.2:c.3292G>T , LRG_724t1:c.3292G>T	NP_001005862.1:p.Val1098Phe
NM_001289936.1:c.3337G>T , LRG_724t4:c.3337G>T	NP_001276865.1:p.Val1113Phe
NM_001289937.1:c.3160-172G>T	NP_001276866.1:n.3160-172G>T
NM_004448.3:c.3382G>T , LRG_724t2:c.3382G>T	NP_004439.2:p.Val1128Phe
NR_110535.1:n.3706G>T
XM_024450641.1:c.3520G>T	XP_024306409.1:p.Val1174Phe
XM_024450642.1:c.3475G>T	XP_024306410.1:p.Val1159Phe
XM_024450643.1:c.3430G>T	XP_024306411.1:p.Val1144Phe
NM_001005862.3:c.3292G>T	NP_001005862.1:p.Val1098Phe
NM_001289936.2:c.3337G>T	NP_001276865.1:p.Val1113Phe
NM_001289937.2:c.3160-172G>T	NP_001276866.1:n.3160-172G>T
NM_001382782.1:c.3292G>T	NP_001369711.1:p.Val1098Phe
NM_001382783.1:c.3292G>T	NP_001369712.1:p.Val1098Phe
NM_001382784.1:c.3499G>T	NP_001369713.1:p.Val1167Phe
NM_001382785.1:c.3484G>T	NP_001369714.1:p.Val1162Phe
NM_001382786.1:c.3463G>T	NP_001369715.1:p.Val1155Phe
NM_001382787.1:c.3457G>T	NP_001369716.1:p.Val1153Phe
NM_001382788.1:c.3412G>T	NP_001369717.1:p.Val1138Phe
NM_001382789.1:c.3403G>T	NP_001369718.1:p.Val1135Phe
NM_001382790.1:c.3379G>T	NP_001369719.1:p.Val1127Phe
NM_001382791.1:c.3373G>T	NP_001369720.1:p.Val1125Phe
NM_001382792.1:c.3346G>T	NP_001369721.1:p.Val1116Phe
NM_001382793.1:c.3340G>T	NP_001369722.1:p.Val1114Phe
NM_001382794.1:c.3340G>T	NP_001369723.1:p.Val1114Phe
NM_001382795.1:c.3334G>T	NP_001369724.1:p.Val1112Phe
NM_001382796.1:c.3295G>T	NP_001369725.1:p.Val1099Phe
NM_001382797.1:c.3283G>T	NP_001369726.1:p.Val1095Phe
NM_001382798.1:c.3226G>T	NP_001369727.1:p.Val1076Phe
NM_001382799.1:c.3202G>T	NP_001369728.1:p.Val1068Phe
NM_001382800.1:c.3196G>T	NP_001369729.1:p.Val1066Phe
NM_001382801.1:c.3178G>T	NP_001369730.1:p.Val1060Phe
NM_001382802.1:c.3124G>T	NP_001369731.1:p.Val1042Phe
NM_001382803.1:c.3118-172G>T	NP_001369732.1:n.3118-172G>T
NM_001382804.1:c.2554G>T	NP_001369733.1:p.Val852Phe
NM_001382805.1:c.2431G>T	NP_001369734.1:p.Val811Phe
NM_001382806.1:c.2344G>T	NP_001369735.1:p.Val782Phe
NM_004448.4:c.3382G>T MANE Select	NP_004439.2:p.Val1128Phe
NR_110535.2:n.3620G>T