Canonical Allele Identifier: CA399310768

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143247310
• MyVariant Identifiers: chr17:g.37883681T>A (hg19) ; chr17:g.39727428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727428T>A , CM000679.2:g.39727428T>A	GRCh38
NC_000017.10:g.37883681T>A , CM000679.1:g.37883681T>A	GRCh37
NC_000017.9:g.35137207T>A	NCBI36
NG_007503.1:g.44289T>A , LRG_724:g.44289T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3293T>A MANE Select	ENSP00000269571.4:p.Leu1098Gln
ENST00000269571.9:c.3293T>A	ENSP00000269571.4:p.Leu1098Gln
ENST00000406381.6:c.3203T>A	ENSP00000385185.2:p.Leu1068Gln
ENST00000445658.6:c.2465T>A	ENSP00000404047.2:p.Leu822Gln
ENST00000541774.5:c.3248T>A	ENSP00000446466.1:p.Leu1083Gln
ENST00000578373.5:c.*3083T>A	ENSP00000463427.1:n.*3083T>A
ENST00000584450.5:c.3160-261T>A	ENSP00000463714.1:n.3160-261T>A
ENST00000584601.5:c.3203T>A	ENSP00000462438.1:p.Leu1068Gln
NM_001005862.2:c.3203T>A , LRG_724t1:c.3203T>A	NP_001005862.1:p.Leu1068Gln
NM_001289936.1:c.3248T>A , LRG_724t4:c.3248T>A	NP_001276865.1:p.Leu1083Gln
NM_001289937.1:c.3160-261T>A	NP_001276866.1:n.3160-261T>A
NM_004448.3:c.3293T>A , LRG_724t2:c.3293T>A	NP_004439.2:p.Leu1098Gln
NR_110535.1:n.3617T>A
XM_024450641.1:c.3431T>A	XP_024306409.1:p.Leu1144Gln
XM_024450642.1:c.3386T>A	XP_024306410.1:p.Leu1129Gln
XM_024450643.1:c.3341T>A	XP_024306411.1:p.Leu1114Gln
NM_001005862.3:c.3203T>A	NP_001005862.1:p.Leu1068Gln
NM_001289936.2:c.3248T>A	NP_001276865.1:p.Leu1083Gln
NM_001289937.2:c.3160-261T>A	NP_001276866.1:n.3160-261T>A
NM_001382782.1:c.3203T>A	NP_001369711.1:p.Leu1068Gln
NM_001382783.1:c.3203T>A	NP_001369712.1:p.Leu1068Gln
NM_001382784.1:c.3410T>A	NP_001369713.1:p.Leu1137Gln
NM_001382785.1:c.3395T>A	NP_001369714.1:p.Leu1132Gln
NM_001382786.1:c.3374T>A	NP_001369715.1:p.Leu1125Gln
NM_001382787.1:c.3368T>A	NP_001369716.1:p.Leu1123Gln
NM_001382788.1:c.3323T>A	NP_001369717.1:p.Leu1108Gln
NM_001382789.1:c.3314T>A	NP_001369718.1:p.Leu1105Gln
NM_001382790.1:c.3290T>A	NP_001369719.1:p.Leu1097Gln
NM_001382791.1:c.3284T>A	NP_001369720.1:p.Leu1095Gln
NM_001382792.1:c.3257T>A	NP_001369721.1:p.Leu1086Gln
NM_001382793.1:c.3251T>A	NP_001369722.1:p.Leu1084Gln
NM_001382794.1:c.3251T>A	NP_001369723.1:p.Leu1084Gln
NM_001382795.1:c.3245T>A	NP_001369724.1:p.Leu1082Gln
NM_001382796.1:c.3206T>A	NP_001369725.1:p.Leu1069Gln
NM_001382797.1:c.3194T>A	NP_001369726.1:p.Leu1065Gln
NM_001382798.1:c.3137T>A	NP_001369727.1:p.Leu1046Gln
NM_001382799.1:c.3113T>A	NP_001369728.1:p.Leu1038Gln
NM_001382800.1:c.3107T>A	NP_001369729.1:p.Leu1036Gln
NM_001382801.1:c.3089T>A	NP_001369730.1:p.Leu1030Gln
NM_001382802.1:c.3035T>A	NP_001369731.1:p.Leu1012Gln
NM_001382803.1:c.3118-261T>A	NP_001369732.1:n.3118-261T>A
NM_001382804.1:c.2465T>A	NP_001369733.1:p.Leu822Gln
NM_001382805.1:c.2342T>A	NP_001369734.1:p.Leu781Gln
NM_001382806.1:c.2255T>A	NP_001369735.1:p.Leu752Gln
NM_004448.4:c.3293T>A MANE Select	NP_004439.2:p.Leu1098Gln
NR_110535.2:n.3531T>A