Canonical Allele Identifier: CA399312695

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143255989
• MyVariant Identifiers: chr17:g.37883758A>C (hg19) ; chr17:g.39727505A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727505A>C , CM000679.2:g.39727505A>C	GRCh38
NC_000017.10:g.37883758A>C , CM000679.1:g.37883758A>C	GRCh37
NC_000017.9:g.35137284A>C	NCBI36
NG_007503.1:g.44366A>C , LRG_724:g.44366A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3370A>C MANE Select	ENSP00000269571.4:p.Thr1124Pro
ENST00000269571.9:c.3370A>C	ENSP00000269571.4:p.Thr1124Pro
ENST00000406381.6:c.3280A>C	ENSP00000385185.2:p.Thr1094Pro
ENST00000445658.6:c.2542A>C	ENSP00000404047.2:p.Thr848Pro
ENST00000541774.5:c.3325A>C	ENSP00000446466.1:p.Thr1109Pro
ENST00000578373.5:c.*3160A>C	ENSP00000463427.1:n.*3160A>C
ENST00000584450.5:c.3160-184A>C	ENSP00000463714.1:n.3160-184A>C
ENST00000584601.5:c.3280A>C	ENSP00000462438.1:p.Thr1094Pro
NM_001005862.2:c.3280A>C , LRG_724t1:c.3280A>C	NP_001005862.1:p.Thr1094Pro
NM_001289936.1:c.3325A>C , LRG_724t4:c.3325A>C	NP_001276865.1:p.Thr1109Pro
NM_001289937.1:c.3160-184A>C	NP_001276866.1:n.3160-184A>C
NM_004448.3:c.3370A>C , LRG_724t2:c.3370A>C	NP_004439.2:p.Thr1124Pro
NR_110535.1:n.3694A>C
XM_024450641.1:c.3508A>C	XP_024306409.1:p.Thr1170Pro
XM_024450642.1:c.3463A>C	XP_024306410.1:p.Thr1155Pro
XM_024450643.1:c.3418A>C	XP_024306411.1:p.Thr1140Pro
NM_001005862.3:c.3280A>C	NP_001005862.1:p.Thr1094Pro
NM_001289936.2:c.3325A>C	NP_001276865.1:p.Thr1109Pro
NM_001289937.2:c.3160-184A>C	NP_001276866.1:n.3160-184A>C
NM_001382782.1:c.3280A>C	NP_001369711.1:p.Thr1094Pro
NM_001382783.1:c.3280A>C	NP_001369712.1:p.Thr1094Pro
NM_001382784.1:c.3487A>C	NP_001369713.1:p.Thr1163Pro
NM_001382785.1:c.3472A>C	NP_001369714.1:p.Thr1158Pro
NM_001382786.1:c.3451A>C	NP_001369715.1:p.Thr1151Pro
NM_001382787.1:c.3445A>C	NP_001369716.1:p.Thr1149Pro
NM_001382788.1:c.3400A>C	NP_001369717.1:p.Thr1134Pro
NM_001382789.1:c.3391A>C	NP_001369718.1:p.Thr1131Pro
NM_001382790.1:c.3367A>C	NP_001369719.1:p.Thr1123Pro
NM_001382791.1:c.3361A>C	NP_001369720.1:p.Thr1121Pro
NM_001382792.1:c.3334A>C	NP_001369721.1:p.Thr1112Pro
NM_001382793.1:c.3328A>C	NP_001369722.1:p.Thr1110Pro
NM_001382794.1:c.3328A>C	NP_001369723.1:p.Thr1110Pro
NM_001382795.1:c.3322A>C	NP_001369724.1:p.Thr1108Pro
NM_001382796.1:c.3283A>C	NP_001369725.1:p.Thr1095Pro
NM_001382797.1:c.3271A>C	NP_001369726.1:p.Thr1091Pro
NM_001382798.1:c.3214A>C	NP_001369727.1:p.Thr1072Pro
NM_001382799.1:c.3190A>C	NP_001369728.1:p.Thr1064Pro
NM_001382800.1:c.3184A>C	NP_001369729.1:p.Thr1062Pro
NM_001382801.1:c.3166A>C	NP_001369730.1:p.Thr1056Pro
NM_001382802.1:c.3112A>C	NP_001369731.1:p.Thr1038Pro
NM_001382803.1:c.3118-184A>C	NP_001369732.1:n.3118-184A>C
NM_001382804.1:c.2542A>C	NP_001369733.1:p.Thr848Pro
NM_001382805.1:c.2419A>C	NP_001369734.1:p.Thr807Pro
NM_001382806.1:c.2332A>C	NP_001369735.1:p.Thr778Pro
NM_004448.4:c.3370A>C MANE Select	NP_004439.2:p.Thr1124Pro
NR_110535.2:n.3608A>C