Canonical Allele Identifier: CA399302967

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145848855
• MyVariant Identifiers: chr17:g.37881024C>T (hg19) ; chr17:g.39724771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724771C>T , CM000679.2:g.39724771C>T	GRCh38
NC_000017.10:g.37881024C>T , CM000679.1:g.37881024C>T	GRCh37
NC_000017.9:g.35134550C>T	NCBI36
NG_007503.1:g.41632C>T , LRG_724:g.41632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2353C>T MANE Select	ENSP00000269571.4:p.Leu785Phe
ENST00000269571.9:c.2353C>T	ENSP00000269571.4:p.Leu785Phe
ENST00000406381.6:c.2263C>T	ENSP00000385185.2:p.Leu755Phe
ENST00000445658.6:c.1525C>T	ENSP00000404047.2:p.Leu509Phe
ENST00000541774.5:c.2308C>T	ENSP00000446466.1:p.Leu770Phe
ENST00000578373.5:c.*2143C>T	ENSP00000463427.1:n.*2143C>T
ENST00000580074.1:c.459C>T
ENST00000583038.5:n.3487C>T
ENST00000584450.5:c.2353C>T	ENSP00000463714.1:p.Leu785Phe
ENST00000584601.5:c.2263C>T	ENSP00000462438.1:p.Leu755Phe
NM_001005862.2:c.2263C>T , LRG_724t1:c.2263C>T	NP_001005862.1:p.Leu755Phe
NM_001289936.1:c.2308C>T , LRG_724t4:c.2308C>T	NP_001276865.1:p.Leu770Phe
NM_001289937.1:c.2353C>T	NP_001276866.1:p.Leu785Phe
NM_004448.3:c.2353C>T , LRG_724t2:c.2353C>T	NP_004439.2:p.Leu785Phe
NR_110535.1:n.2677C>T
XM_024450641.1:c.2491C>T	XP_024306409.1:p.Leu831Phe
XM_024450642.1:c.2446C>T	XP_024306410.1:p.Leu816Phe
XM_024450643.1:c.2401C>T	XP_024306411.1:p.Leu801Phe
NM_001005862.3:c.2263C>T	NP_001005862.1:p.Leu755Phe
NM_001289936.2:c.2308C>T	NP_001276865.1:p.Leu770Phe
NM_001289937.2:c.2353C>T	NP_001276866.1:p.Leu785Phe
NM_001382782.1:c.2263C>T	NP_001369711.1:p.Leu755Phe
NM_001382783.1:c.2263C>T	NP_001369712.1:p.Leu755Phe
NM_001382784.1:c.2470C>T	NP_001369713.1:p.Leu824Phe
NM_001382785.1:c.2455C>T	NP_001369714.1:p.Leu819Phe
NM_001382786.1:c.2434C>T	NP_001369715.1:p.Leu812Phe
NM_001382787.1:c.2428C>T	NP_001369716.1:p.Leu810Phe
NM_001382788.1:c.2383C>T	NP_001369717.1:p.Leu795Phe
NM_001382789.1:c.2374C>T	NP_001369718.1:p.Leu792Phe
NM_001382790.1:c.2350C>T	NP_001369719.1:p.Leu784Phe
NM_001382791.1:c.2344C>T	NP_001369720.1:p.Leu782Phe
NM_001382792.1:c.2317C>T	NP_001369721.1:p.Leu773Phe
NM_001382793.1:c.2311C>T	NP_001369722.1:p.Leu771Phe
NM_001382794.1:c.2311C>T	NP_001369723.1:p.Leu771Phe
NM_001382795.1:c.2305C>T	NP_001369724.1:p.Leu769Phe
NM_001382796.1:c.2353C>T	NP_001369725.1:p.Leu785Phe
NM_001382797.1:c.2254C>T	NP_001369726.1:p.Leu752Phe
NM_001382798.1:c.2353C>T	NP_001369727.1:p.Leu785Phe
NM_001382799.1:c.2173C>T	NP_001369728.1:p.Leu725Phe
NM_001382800.1:c.2308-278C>T	NP_001369729.1:n.2308-278C>T
NM_001382801.1:c.2305C>T	NP_001369730.1:p.Leu769Phe
NM_001382802.1:c.2095C>T	NP_001369731.1:p.Leu699Phe
NM_001382803.1:c.2311C>T	NP_001369732.1:p.Leu771Phe
NM_001382804.1:c.1525C>T	NP_001369733.1:p.Leu509Phe
NM_001382805.1:c.2208+1111C>T	NP_001369734.1:n.2208+1111C>T
NM_001382806.1:c.1315C>T	NP_001369735.1:p.Leu439Phe
NM_004448.4:c.2353C>T MANE Select	NP_004439.2:p.Leu785Phe
NR_110535.2:n.2591C>T