Canonical Allele Identifier: CA499890252

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143252770
• MyVariant Identifiers: chr17:g.37883727T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727474T>C , CM000679.2:g.39727474T>C	GRCh38
NC_000017.10:g.37883727T>C , CM000679.1:g.37883727T>C	GRCh37
NC_000017.9:g.35137253T>C	NCBI36
NG_007503.1:g.44335T>C , LRG_724:g.44335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3339T>C MANE Select	ENSP00000269571.4:p.Ser1113=
ENST00000269571.9:c.3339T>C	ENSP00000269571.4:p.Ser1113=
ENST00000406381.6:c.3249T>C	ENSP00000385185.2:p.Ser1083=
ENST00000445658.6:c.2511T>C	ENSP00000404047.2:p.Ser837=
ENST00000541774.5:c.3294T>C	ENSP00000446466.1:p.Ser1098=
ENST00000578373.5:c.*3129T>C	ENSP00000463427.1:n.*3129T>C
ENST00000584450.5:c.3160-215T>C	ENSP00000463714.1:n.3160-215T>C
ENST00000584601.5:c.3249T>C	ENSP00000462438.1:p.Ser1083=
NM_001005862.2:c.3249T>C , LRG_724t1:c.3249T>C	NP_001005862.1:p.Ser1083=
NM_001289936.1:c.3294T>C , LRG_724t4:c.3294T>C	NP_001276865.1:p.Ser1098=
NM_001289937.1:c.3160-215T>C	NP_001276866.1:n.3160-215T>C
NM_004448.3:c.3339T>C , LRG_724t2:c.3339T>C	NP_004439.2:p.Ser1113=
NR_110535.1:n.3663T>C
XM_024450641.1:c.3477T>C	XP_024306409.1:p.Ser1159=
XM_024450642.1:c.3432T>C	XP_024306410.1:p.Ser1144=
XM_024450643.1:c.3387T>C	XP_024306411.1:p.Ser1129=
NM_001005862.3:c.3249T>C	NP_001005862.1:p.Ser1083=
NM_001289936.2:c.3294T>C	NP_001276865.1:p.Ser1098=
NM_001289937.2:c.3160-215T>C	NP_001276866.1:n.3160-215T>C
NM_001382782.1:c.3249T>C	NP_001369711.1:p.Ser1083=
NM_001382783.1:c.3249T>C	NP_001369712.1:p.Ser1083=
NM_001382784.1:c.3456T>C	NP_001369713.1:p.Ser1152=
NM_001382785.1:c.3441T>C	NP_001369714.1:p.Ser1147=
NM_001382786.1:c.3420T>C	NP_001369715.1:p.Ser1140=
NM_001382787.1:c.3414T>C	NP_001369716.1:p.Ser1138=
NM_001382788.1:c.3369T>C	NP_001369717.1:p.Ser1123=
NM_001382789.1:c.3360T>C	NP_001369718.1:p.Ser1120=
NM_001382790.1:c.3336T>C	NP_001369719.1:p.Ser1112=
NM_001382791.1:c.3330T>C	NP_001369720.1:p.Ser1110=
NM_001382792.1:c.3303T>C	NP_001369721.1:p.Ser1101=
NM_001382793.1:c.3297T>C	NP_001369722.1:p.Ser1099=
NM_001382794.1:c.3297T>C	NP_001369723.1:p.Ser1099=
NM_001382795.1:c.3291T>C	NP_001369724.1:p.Ser1097=
NM_001382796.1:c.3252T>C	NP_001369725.1:p.Ser1084=
NM_001382797.1:c.3240T>C	NP_001369726.1:p.Ser1080=
NM_001382798.1:c.3183T>C	NP_001369727.1:p.Ser1061=
NM_001382799.1:c.3159T>C	NP_001369728.1:p.Ser1053=
NM_001382800.1:c.3153T>C	NP_001369729.1:p.Ser1051=
NM_001382801.1:c.3135T>C	NP_001369730.1:p.Ser1045=
NM_001382802.1:c.3081T>C	NP_001369731.1:p.Ser1027=
NM_001382803.1:c.3118-215T>C	NP_001369732.1:n.3118-215T>C
NM_001382804.1:c.2511T>C	NP_001369733.1:p.Ser837=
NM_001382805.1:c.2388T>C	NP_001369734.1:p.Ser796=
NM_001382806.1:c.2301T>C	NP_001369735.1:p.Ser767=
NM_004448.4:c.3339T>C MANE Select	NP_004439.2:p.Ser1113=
NR_110535.2:n.3577T>C