Canonical Allele Identifier: CA399282375

Gene: ERBB2

Linked Data

• dbSNP Id: rs2058825804
• MyVariant Identifiers: chr17:g.37868229T>C (hg19) ; chr17:g.39711976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39711976T>C , CM000679.2:g.39711976T>C	GRCh38
NC_000017.10:g.37868229T>C , CM000679.1:g.37868229T>C	GRCh37
NC_000017.9:g.35121755T>C	NCBI36
NG_007503.1:g.28837T>C , LRG_724:g.28837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.950T>C MANE Select	ENSP00000269571.4:p.Leu317Pro
ENST00000269571.9:c.950T>C	ENSP00000269571.4:p.Leu317Pro
ENST00000406381.6:c.860T>C	ENSP00000385185.2:p.Leu287Pro
ENST00000445658.6:c.122T>C	ENSP00000404047.2:p.Leu41Pro
ENST00000541774.5:c.905T>C	ENSP00000446466.1:p.Leu302Pro
ENST00000578199.5:c.860T>C	ENSP00000462808.1:p.Leu287Pro
ENST00000578373.5:c.*740T>C	ENSP00000463427.1:n.*740T>C
ENST00000578502.1:c.175T>C
ENST00000582648.5:c.274T>C	ENSP00000462024.1:p.Cys92Arg
ENST00000582788.5:n.439T>C
ENST00000583038.5:n.1642T>C
ENST00000584450.5:c.950T>C	ENSP00000463714.1:p.Leu317Pro
ENST00000584601.5:c.860T>C	ENSP00000462438.1:p.Leu287Pro
ENST00000584908.5:n.962T>C
NM_001005862.2:c.860T>C , LRG_724t1:c.860T>C	NP_001005862.1:p.Leu287Pro
NM_001289936.1:c.905T>C , LRG_724t4:c.905T>C	NP_001276865.1:p.Leu302Pro
NM_001289937.1:c.950T>C	NP_001276866.1:p.Leu317Pro
NM_001289938.1:c.860T>C , LRG_724t3:c.860T>C	NP_001276867.1:p.Leu287Pro
NM_004448.3:c.950T>C , LRG_724t2:c.950T>C	NP_004439.2:p.Leu317Pro
NR_110535.1:n.1274T>C
XM_024450641.1:c.1088T>C	XP_024306409.1:p.Leu363Pro
XM_024450642.1:c.1043T>C	XP_024306410.1:p.Leu348Pro
XM_024450643.1:c.998T>C	XP_024306411.1:p.Leu333Pro
NM_001005862.3:c.860T>C	NP_001005862.1:p.Leu287Pro
NM_001289936.2:c.905T>C	NP_001276865.1:p.Leu302Pro
NM_001289937.2:c.950T>C	NP_001276866.1:p.Leu317Pro
NM_001289938.2:c.860T>C	NP_001276867.1:p.Leu287Pro
NM_001382782.1:c.860T>C	NP_001369711.1:p.Leu287Pro
NM_001382783.1:c.860T>C	NP_001369712.1:p.Leu287Pro
NM_001382784.1:c.950T>C	NP_001369713.1:p.Leu317Pro
NM_001382785.1:c.950T>C	NP_001369714.1:p.Leu317Pro
NM_001382786.1:c.950T>C	NP_001369715.1:p.Leu317Pro
NM_001382787.1:c.1025T>C	NP_001369716.1:p.Leu342Pro
NM_001382788.1:c.950T>C	NP_001369717.1:p.Leu317Pro
NM_001382789.1:c.950T>C	NP_001369718.1:p.Leu317Pro
NM_001382790.1:c.950T>C	NP_001369719.1:p.Leu317Pro
NM_001382791.1:c.941T>C	NP_001369720.1:p.Leu314Pro
NM_001382792.1:c.950T>C	NP_001369721.1:p.Leu317Pro
NM_001382793.1:c.950T>C	NP_001369722.1:p.Leu317Pro
NM_001382794.1:c.950T>C	NP_001369723.1:p.Leu317Pro
NM_001382795.1:c.950T>C	NP_001369724.1:p.Leu317Pro
NM_001382796.1:c.950T>C	NP_001369725.1:p.Leu317Pro
NM_001382797.1:c.950T>C	NP_001369726.1:p.Leu317Pro
NM_001382798.1:c.950T>C	NP_001369727.1:p.Leu317Pro
NM_001382799.1:c.770T>C	NP_001369728.1:p.Leu257Pro
NM_001382800.1:c.950T>C	NP_001369729.1:p.Leu317Pro
NM_001382801.1:c.950T>C	NP_001369730.1:p.Leu317Pro
NM_001382802.1:c.692T>C	NP_001369731.1:p.Leu231Pro
NM_001382803.1:c.950T>C	NP_001369732.1:p.Leu317Pro
NM_001382804.1:c.122T>C	NP_001369733.1:p.Leu41Pro
NM_001382805.1:c.950T>C	NP_001369734.1:p.Leu317Pro
NM_001382806.1:c.950T>C	NP_001369735.1:p.Leu317Pro
NM_004448.4:c.950T>C MANE Select	NP_004439.2:p.Leu317Pro
NR_110535.2:n.1188T>C