Canonical Allele Identifier: CA399310542

Gene: ERBB2

Linked Data

• dbSNP Id: rs1208224755
• MyVariant Identifiers: chr17:g.37883641G>C (hg19) ; chr17:g.39727388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727388G>C , CM000679.2:g.39727388G>C	GRCh38
NC_000017.10:g.37883641G>C , CM000679.1:g.37883641G>C	GRCh37
NC_000017.9:g.35137167G>C	NCBI36
NG_007503.1:g.44249G>C , LRG_724:g.44249G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3253G>C MANE Select	ENSP00000269571.4:p.Val1085Leu
ENST00000269571.9:c.3253G>C	ENSP00000269571.4:p.Val1085Leu
ENST00000406381.6:c.3163G>C	ENSP00000385185.2:p.Val1055Leu
ENST00000445658.6:c.2425G>C	ENSP00000404047.2:p.Val809Leu
ENST00000541774.5:c.3208G>C	ENSP00000446466.1:p.Val1070Leu
ENST00000578373.5:c.*3043G>C	ENSP00000463427.1:n.*3043G>C
ENST00000584450.5:c.3160-301G>C	ENSP00000463714.1:n.3160-301G>C
ENST00000584601.5:c.3163G>C	ENSP00000462438.1:p.Val1055Leu
NM_001005862.2:c.3163G>C , LRG_724t1:c.3163G>C	NP_001005862.1:p.Val1055Leu
NM_001289936.1:c.3208G>C , LRG_724t4:c.3208G>C	NP_001276865.1:p.Val1070Leu
NM_001289937.1:c.3160-301G>C	NP_001276866.1:n.3160-301G>C
NM_004448.3:c.3253G>C , LRG_724t2:c.3253G>C	NP_004439.2:p.Val1085Leu
NR_110535.1:n.3577G>C
XM_024450641.1:c.3391G>C	XP_024306409.1:p.Val1131Leu
XM_024450642.1:c.3346G>C	XP_024306410.1:p.Val1116Leu
XM_024450643.1:c.3301G>C	XP_024306411.1:p.Val1101Leu
NM_001005862.3:c.3163G>C	NP_001005862.1:p.Val1055Leu
NM_001289936.2:c.3208G>C	NP_001276865.1:p.Val1070Leu
NM_001289937.2:c.3160-301G>C	NP_001276866.1:n.3160-301G>C
NM_001382782.1:c.3163G>C	NP_001369711.1:p.Val1055Leu
NM_001382783.1:c.3163G>C	NP_001369712.1:p.Val1055Leu
NM_001382784.1:c.3370G>C	NP_001369713.1:p.Val1124Leu
NM_001382785.1:c.3355G>C	NP_001369714.1:p.Val1119Leu
NM_001382786.1:c.3334G>C	NP_001369715.1:p.Val1112Leu
NM_001382787.1:c.3328G>C	NP_001369716.1:p.Val1110Leu
NM_001382788.1:c.3283G>C	NP_001369717.1:p.Val1095Leu
NM_001382789.1:c.3274G>C	NP_001369718.1:p.Val1092Leu
NM_001382790.1:c.3250G>C	NP_001369719.1:p.Val1084Leu
NM_001382791.1:c.3244G>C	NP_001369720.1:p.Val1082Leu
NM_001382792.1:c.3217G>C	NP_001369721.1:p.Val1073Leu
NM_001382793.1:c.3211G>C	NP_001369722.1:p.Val1071Leu
NM_001382794.1:c.3211G>C	NP_001369723.1:p.Val1071Leu
NM_001382795.1:c.3205G>C	NP_001369724.1:p.Val1069Leu
NM_001382796.1:c.3166G>C	NP_001369725.1:p.Val1056Leu
NM_001382797.1:c.3154G>C	NP_001369726.1:p.Val1052Leu
NM_001382798.1:c.3097G>C	NP_001369727.1:p.Val1033Leu
NM_001382799.1:c.3073G>C	NP_001369728.1:p.Val1025Leu
NM_001382800.1:c.3067G>C	NP_001369729.1:p.Val1023Leu
NM_001382801.1:c.3049G>C	NP_001369730.1:p.Val1017Leu
NM_001382802.1:c.2995G>C	NP_001369731.1:p.Val999Leu
NM_001382803.1:c.3118-301G>C	NP_001369732.1:n.3118-301G>C
NM_001382804.1:c.2425G>C	NP_001369733.1:p.Val809Leu
NM_001382805.1:c.2302G>C	NP_001369734.1:p.Val768Leu
NM_001382806.1:c.2215G>C	NP_001369735.1:p.Val739Leu
NM_004448.4:c.3253G>C MANE Select	NP_004439.2:p.Val1085Leu
NR_110535.2:n.3491G>C