Canonical Allele Identifier: CA399282032

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39711948-G-T
• MyVariant Identifiers: chr17:g.37868201G>T (hg19) ; chr17:g.39711948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39711948G>T , CM000679.2:g.39711948G>T	GRCh38
NC_000017.10:g.37868201G>T , CM000679.1:g.37868201G>T	GRCh37
NC_000017.9:g.35121727G>T	NCBI36
NG_007503.1:g.28809G>T , LRG_724:g.28809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.922G>T MANE Select	ENSP00000269571.4:p.Val308Leu
ENST00000269571.9:c.922G>T	ENSP00000269571.4:p.Val308Leu
ENST00000406381.6:c.832G>T	ENSP00000385185.2:p.Val278Leu
ENST00000445658.6:c.94G>T	ENSP00000404047.2:p.Val32Leu
ENST00000541774.5:c.877G>T	ENSP00000446466.1:p.Val293Leu
ENST00000578199.5:c.832G>T	ENSP00000462808.1:p.Val278Leu
ENST00000578373.5:c.*712G>T	ENSP00000463427.1:n.*712G>T
ENST00000578502.1:c.147G>T
ENST00000582648.5:c.246G>T	ENSP00000462024.1:p.Thr82=
ENST00000582788.5:n.411G>T
ENST00000583038.5:n.1614G>T
ENST00000584450.5:c.922G>T	ENSP00000463714.1:p.Val308Leu
ENST00000584601.5:c.832G>T	ENSP00000462438.1:p.Val278Leu
ENST00000584908.5:n.934G>T
NM_001005862.2:c.832G>T , LRG_724t1:c.832G>T	NP_001005862.1:p.Val278Leu
NM_001289936.1:c.877G>T , LRG_724t4:c.877G>T	NP_001276865.1:p.Val293Leu
NM_001289937.1:c.922G>T	NP_001276866.1:p.Val308Leu
NM_001289938.1:c.832G>T , LRG_724t3:c.832G>T	NP_001276867.1:p.Val278Leu
NM_004448.3:c.922G>T , LRG_724t2:c.922G>T	NP_004439.2:p.Val308Leu
NR_110535.1:n.1246G>T
XM_024450641.1:c.1060G>T	XP_024306409.1:p.Val354Leu
XM_024450642.1:c.1015G>T	XP_024306410.1:p.Val339Leu
XM_024450643.1:c.970G>T	XP_024306411.1:p.Val324Leu
NM_001005862.3:c.832G>T	NP_001005862.1:p.Val278Leu
NM_001289936.2:c.877G>T	NP_001276865.1:p.Val293Leu
NM_001289937.2:c.922G>T	NP_001276866.1:p.Val308Leu
NM_001289938.2:c.832G>T	NP_001276867.1:p.Val278Leu
NM_001382782.1:c.832G>T	NP_001369711.1:p.Val278Leu
NM_001382783.1:c.832G>T	NP_001369712.1:p.Val278Leu
NM_001382784.1:c.922G>T	NP_001369713.1:p.Val308Leu
NM_001382785.1:c.922G>T	NP_001369714.1:p.Val308Leu
NM_001382786.1:c.922G>T	NP_001369715.1:p.Val308Leu
NM_001382787.1:c.997G>T	NP_001369716.1:p.Val333Leu
NM_001382788.1:c.922G>T	NP_001369717.1:p.Val308Leu
NM_001382789.1:c.922G>T	NP_001369718.1:p.Val308Leu
NM_001382790.1:c.922G>T	NP_001369719.1:p.Val308Leu
NM_001382791.1:c.913G>T	NP_001369720.1:p.Val305Leu
NM_001382792.1:c.922G>T	NP_001369721.1:p.Val308Leu
NM_001382793.1:c.922G>T	NP_001369722.1:p.Val308Leu
NM_001382794.1:c.922G>T	NP_001369723.1:p.Val308Leu
NM_001382795.1:c.922G>T	NP_001369724.1:p.Val308Leu
NM_001382796.1:c.922G>T	NP_001369725.1:p.Val308Leu
NM_001382797.1:c.922G>T	NP_001369726.1:p.Val308Leu
NM_001382798.1:c.922G>T	NP_001369727.1:p.Val308Leu
NM_001382799.1:c.742G>T	NP_001369728.1:p.Val248Leu
NM_001382800.1:c.922G>T	NP_001369729.1:p.Val308Leu
NM_001382801.1:c.922G>T	NP_001369730.1:p.Val308Leu
NM_001382802.1:c.664G>T	NP_001369731.1:p.Val222Leu
NM_001382803.1:c.922G>T	NP_001369732.1:p.Val308Leu
NM_001382804.1:c.94G>T	NP_001369733.1:p.Val32Leu
NM_001382805.1:c.922G>T	NP_001369734.1:p.Val308Leu
NM_001382806.1:c.922G>T	NP_001369735.1:p.Val308Leu
NM_004448.4:c.922G>T MANE Select	NP_004439.2:p.Val308Leu
NR_110535.2:n.1160G>T