Canonical Allele Identifier: CA399303392

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145851386
• MyVariant Identifiers: chr17:g.37881088T>C (hg19) ; chr17:g.39724835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724835T>C , CM000679.2:g.39724835T>C	GRCh38
NC_000017.10:g.37881088T>C , CM000679.1:g.37881088T>C	GRCh37
NC_000017.9:g.35134614T>C	NCBI36
NG_007503.1:g.41696T>C , LRG_724:g.41696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2417T>C MANE Select	ENSP00000269571.4:p.Leu806Pro
ENST00000269571.9:c.2417T>C	ENSP00000269571.4:p.Leu806Pro
ENST00000406381.6:c.2327T>C	ENSP00000385185.2:p.Leu776Pro
ENST00000445658.6:c.1589T>C	ENSP00000404047.2:p.Leu530Pro
ENST00000541774.5:c.2372T>C	ENSP00000446466.1:p.Leu791Pro
ENST00000578373.5:c.*2207T>C	ENSP00000463427.1:n.*2207T>C
ENST00000580074.1:c.523T>C
ENST00000583038.5:n.3551T>C
ENST00000584450.5:c.2417T>C	ENSP00000463714.1:p.Leu806Pro
ENST00000584601.5:c.2327T>C	ENSP00000462438.1:p.Leu776Pro
NM_001005862.2:c.2327T>C , LRG_724t1:c.2327T>C	NP_001005862.1:p.Leu776Pro
NM_001289936.1:c.2372T>C , LRG_724t4:c.2372T>C	NP_001276865.1:p.Leu791Pro
NM_001289937.1:c.2417T>C	NP_001276866.1:p.Leu806Pro
NM_004448.3:c.2417T>C , LRG_724t2:c.2417T>C	NP_004439.2:p.Leu806Pro
NR_110535.1:n.2741T>C
XM_024450641.1:c.2555T>C	XP_024306409.1:p.Leu852Pro
XM_024450642.1:c.2510T>C	XP_024306410.1:p.Leu837Pro
XM_024450643.1:c.2465T>C	XP_024306411.1:p.Leu822Pro
NM_001005862.3:c.2327T>C	NP_001005862.1:p.Leu776Pro
NM_001289936.2:c.2372T>C	NP_001276865.1:p.Leu791Pro
NM_001289937.2:c.2417T>C	NP_001276866.1:p.Leu806Pro
NM_001382782.1:c.2327T>C	NP_001369711.1:p.Leu776Pro
NM_001382783.1:c.2327T>C	NP_001369712.1:p.Leu776Pro
NM_001382784.1:c.2534T>C	NP_001369713.1:p.Leu845Pro
NM_001382785.1:c.2519T>C	NP_001369714.1:p.Leu840Pro
NM_001382786.1:c.2498T>C	NP_001369715.1:p.Leu833Pro
NM_001382787.1:c.2492T>C	NP_001369716.1:p.Leu831Pro
NM_001382788.1:c.2447T>C	NP_001369717.1:p.Leu816Pro
NM_001382789.1:c.2438T>C	NP_001369718.1:p.Leu813Pro
NM_001382790.1:c.2414T>C	NP_001369719.1:p.Leu805Pro
NM_001382791.1:c.2408T>C	NP_001369720.1:p.Leu803Pro
NM_001382792.1:c.2381T>C	NP_001369721.1:p.Leu794Pro
NM_001382793.1:c.2375T>C	NP_001369722.1:p.Leu792Pro
NM_001382794.1:c.2375T>C	NP_001369723.1:p.Leu792Pro
NM_001382795.1:c.2369T>C	NP_001369724.1:p.Leu790Pro
NM_001382796.1:c.2417T>C	NP_001369725.1:p.Leu806Pro
NM_001382797.1:c.2318T>C	NP_001369726.1:p.Leu773Pro
NM_001382798.1:c.2417T>C	NP_001369727.1:p.Leu806Pro
NM_001382799.1:c.2237T>C	NP_001369728.1:p.Leu746Pro
NM_001382800.1:c.2308-214T>C	NP_001369729.1:n.2308-214T>C
NM_001382801.1:c.2369T>C	NP_001369730.1:p.Leu790Pro
NM_001382802.1:c.2159T>C	NP_001369731.1:p.Leu720Pro
NM_001382803.1:c.2375T>C	NP_001369732.1:p.Leu792Pro
NM_001382804.1:c.1589T>C	NP_001369733.1:p.Leu530Pro
NM_001382805.1:c.2208+1175T>C	NP_001369734.1:n.2208+1175T>C
NM_001382806.1:c.1379T>C	NP_001369735.1:p.Leu460Pro
NM_004448.4:c.2417T>C MANE Select	NP_004439.2:p.Leu806Pro
NR_110535.2:n.2655T>C