Canonical Allele Identifier: CA399310772

Gene: ERBB2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3293T>C MANE Select	ENSP00000269571.4:p.Leu1098Pro
ENST00000269571.9:c.3293T>C	ENSP00000269571.4:p.Leu1098Pro
ENST00000406381.6:c.3203T>C	ENSP00000385185.2:p.Leu1068Pro
ENST00000445658.6:c.2465T>C	ENSP00000404047.2:p.Leu822Pro
ENST00000541774.5:c.3248T>C	ENSP00000446466.1:p.Leu1083Pro
ENST00000578373.5:c.*3083T>C	ENSP00000463427.1:n.*3083T>C
ENST00000584450.5:c.3160-261T>C	ENSP00000463714.1:n.3160-261T>C
ENST00000584601.5:c.3203T>C	ENSP00000462438.1:p.Leu1068Pro
NM_001005862.2:c.3203T>C , LRG_724t1:c.3203T>C	NP_001005862.1:p.Leu1068Pro
NM_001289936.1:c.3248T>C , LRG_724t4:c.3248T>C	NP_001276865.1:p.Leu1083Pro
NM_001289937.1:c.3160-261T>C	NP_001276866.1:n.3160-261T>C
NM_004448.3:c.3293T>C , LRG_724t2:c.3293T>C	NP_004439.2:p.Leu1098Pro
NR_110535.1:n.3617T>C
XM_024450641.1:c.3431T>C	XP_024306409.1:p.Leu1144Pro
XM_024450642.1:c.3386T>C	XP_024306410.1:p.Leu1129Pro
XM_024450643.1:c.3341T>C	XP_024306411.1:p.Leu1114Pro
NM_001005862.3:c.3203T>C	NP_001005862.1:p.Leu1068Pro
NM_001289936.2:c.3248T>C	NP_001276865.1:p.Leu1083Pro
NM_001289937.2:c.3160-261T>C	NP_001276866.1:n.3160-261T>C
NM_001382782.1:c.3203T>C	NP_001369711.1:p.Leu1068Pro
NM_001382783.1:c.3203T>C	NP_001369712.1:p.Leu1068Pro
NM_001382784.1:c.3410T>C	NP_001369713.1:p.Leu1137Pro
NM_001382785.1:c.3395T>C	NP_001369714.1:p.Leu1132Pro
NM_001382786.1:c.3374T>C	NP_001369715.1:p.Leu1125Pro
NM_001382787.1:c.3368T>C	NP_001369716.1:p.Leu1123Pro
NM_001382788.1:c.3323T>C	NP_001369717.1:p.Leu1108Pro
NM_001382789.1:c.3314T>C	NP_001369718.1:p.Leu1105Pro
NM_001382790.1:c.3290T>C	NP_001369719.1:p.Leu1097Pro
NM_001382791.1:c.3284T>C	NP_001369720.1:p.Leu1095Pro
NM_001382792.1:c.3257T>C	NP_001369721.1:p.Leu1086Pro
NM_001382793.1:c.3251T>C	NP_001369722.1:p.Leu1084Pro
NM_001382794.1:c.3251T>C	NP_001369723.1:p.Leu1084Pro
NM_001382795.1:c.3245T>C	NP_001369724.1:p.Leu1082Pro
NM_001382796.1:c.3206T>C	NP_001369725.1:p.Leu1069Pro
NM_001382797.1:c.3194T>C	NP_001369726.1:p.Leu1065Pro
NM_001382798.1:c.3137T>C	NP_001369727.1:p.Leu1046Pro
NM_001382799.1:c.3113T>C	NP_001369728.1:p.Leu1038Pro
NM_001382800.1:c.3107T>C	NP_001369729.1:p.Leu1036Pro
NM_001382801.1:c.3089T>C	NP_001369730.1:p.Leu1030Pro
NM_001382802.1:c.3035T>C	NP_001369731.1:p.Leu1012Pro
NM_001382803.1:c.3118-261T>C	NP_001369732.1:n.3118-261T>C
NM_001382804.1:c.2465T>C	NP_001369733.1:p.Leu822Pro
NM_001382805.1:c.2342T>C	NP_001369734.1:p.Leu781Pro
NM_001382806.1:c.2255T>C	NP_001369735.1:p.Leu752Pro
NM_004448.4:c.3293T>C MANE Select	NP_004439.2:p.Leu1098Pro
NR_110535.2:n.3531T>C