Canonical Allele Identifier: CA399312681

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143255351
• MyVariant Identifiers: chr17:g.37883753C>T (hg19) ; chr17:g.39727500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727500C>T , CM000679.2:g.39727500C>T	GRCh38
NC_000017.10:g.37883753C>T , CM000679.1:g.37883753C>T	GRCh37
NC_000017.9:g.35137279C>T	NCBI36
NG_007503.1:g.44361C>T , LRG_724:g.44361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3365C>T MANE Select	ENSP00000269571.4:p.Ser1122Phe
ENST00000269571.9:c.3365C>T	ENSP00000269571.4:p.Ser1122Phe
ENST00000406381.6:c.3275C>T	ENSP00000385185.2:p.Ser1092Phe
ENST00000445658.6:c.2537C>T	ENSP00000404047.2:p.Ser846Phe
ENST00000541774.5:c.3320C>T	ENSP00000446466.1:p.Ser1107Phe
ENST00000578373.5:c.*3155C>T	ENSP00000463427.1:n.*3155C>T
ENST00000584450.5:c.3160-189C>T	ENSP00000463714.1:n.3160-189C>T
ENST00000584601.5:c.3275C>T	ENSP00000462438.1:p.Ser1092Phe
NM_001005862.2:c.3275C>T , LRG_724t1:c.3275C>T	NP_001005862.1:p.Ser1092Phe
NM_001289936.1:c.3320C>T , LRG_724t4:c.3320C>T	NP_001276865.1:p.Ser1107Phe
NM_001289937.1:c.3160-189C>T	NP_001276866.1:n.3160-189C>T
NM_004448.3:c.3365C>T , LRG_724t2:c.3365C>T	NP_004439.2:p.Ser1122Phe
NR_110535.1:n.3689C>T
XM_024450641.1:c.3503C>T	XP_024306409.1:p.Ser1168Phe
XM_024450642.1:c.3458C>T	XP_024306410.1:p.Ser1153Phe
XM_024450643.1:c.3413C>T	XP_024306411.1:p.Ser1138Phe
NM_001005862.3:c.3275C>T	NP_001005862.1:p.Ser1092Phe
NM_001289936.2:c.3320C>T	NP_001276865.1:p.Ser1107Phe
NM_001289937.2:c.3160-189C>T	NP_001276866.1:n.3160-189C>T
NM_001382782.1:c.3275C>T	NP_001369711.1:p.Ser1092Phe
NM_001382783.1:c.3275C>T	NP_001369712.1:p.Ser1092Phe
NM_001382784.1:c.3482C>T	NP_001369713.1:p.Ser1161Phe
NM_001382785.1:c.3467C>T	NP_001369714.1:p.Ser1156Phe
NM_001382786.1:c.3446C>T	NP_001369715.1:p.Ser1149Phe
NM_001382787.1:c.3440C>T	NP_001369716.1:p.Ser1147Phe
NM_001382788.1:c.3395C>T	NP_001369717.1:p.Ser1132Phe
NM_001382789.1:c.3386C>T	NP_001369718.1:p.Ser1129Phe
NM_001382790.1:c.3362C>T	NP_001369719.1:p.Ser1121Phe
NM_001382791.1:c.3356C>T	NP_001369720.1:p.Ser1119Phe
NM_001382792.1:c.3329C>T	NP_001369721.1:p.Ser1110Phe
NM_001382793.1:c.3323C>T	NP_001369722.1:p.Ser1108Phe
NM_001382794.1:c.3323C>T	NP_001369723.1:p.Ser1108Phe
NM_001382795.1:c.3317C>T	NP_001369724.1:p.Ser1106Phe
NM_001382796.1:c.3278C>T	NP_001369725.1:p.Ser1093Phe
NM_001382797.1:c.3266C>T	NP_001369726.1:p.Ser1089Phe
NM_001382798.1:c.3209C>T	NP_001369727.1:p.Ser1070Phe
NM_001382799.1:c.3185C>T	NP_001369728.1:p.Ser1062Phe
NM_001382800.1:c.3179C>T	NP_001369729.1:p.Ser1060Phe
NM_001382801.1:c.3161C>T	NP_001369730.1:p.Ser1054Phe
NM_001382802.1:c.3107C>T	NP_001369731.1:p.Ser1036Phe
NM_001382803.1:c.3118-189C>T	NP_001369732.1:n.3118-189C>T
NM_001382804.1:c.2537C>T	NP_001369733.1:p.Ser846Phe
NM_001382805.1:c.2414C>T	NP_001369734.1:p.Ser805Phe
NM_001382806.1:c.2327C>T	NP_001369735.1:p.Ser776Phe
NM_004448.4:c.3365C>T MANE Select	NP_004439.2:p.Ser1122Phe
NR_110535.2:n.3603C>T