Canonical Allele Identifier: CA399304263

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145863056
• COSMIC: COSM4753065 ; COSM5176923
• MyVariant Identifiers: chr17:g.37881329C>G (hg19) ; chr17:g.39725076C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725076C>G , CM000679.2:g.39725076C>G	GRCh38
NC_000017.10:g.37881329C>G , CM000679.1:g.37881329C>G	GRCh37
NC_000017.9:g.35134855C>G	NCBI36
NG_007503.1:g.41937C>G , LRG_724:g.41937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2521C>G MANE Select	ENSP00000269571.4:p.Leu841Val
ENST00000269571.9:c.2521C>G	ENSP00000269571.4:p.Leu841Val
ENST00000406381.6:c.2431C>G	ENSP00000385185.2:p.Leu811Val
ENST00000445658.6:c.1693C>G	ENSP00000404047.2:p.Leu565Val
ENST00000541774.5:c.2476C>G	ENSP00000446466.1:p.Leu826Val
ENST00000578373.5:c.*2311C>G	ENSP00000463427.1:n.*2311C>G
ENST00000580074.1:c.627C>G
ENST00000583038.5:n.3655C>G
ENST00000584450.5:c.2521C>G	ENSP00000463714.1:p.Leu841Val
ENST00000584601.5:c.2431C>G	ENSP00000462438.1:p.Leu811Val
NM_001005862.2:c.2431C>G , LRG_724t1:c.2431C>G	NP_001005862.1:p.Leu811Val
NM_001289936.1:c.2476C>G , LRG_724t4:c.2476C>G	NP_001276865.1:p.Leu826Val
NM_001289937.1:c.2521C>G	NP_001276866.1:p.Leu841Val
NM_004448.3:c.2521C>G , LRG_724t2:c.2521C>G	NP_004439.2:p.Leu841Val
NR_110535.1:n.2845C>G
XM_024450641.1:c.2659C>G	XP_024306409.1:p.Leu887Val
XM_024450642.1:c.2614C>G	XP_024306410.1:p.Leu872Val
XM_024450643.1:c.2569C>G	XP_024306411.1:p.Leu857Val
NM_001005862.3:c.2431C>G	NP_001005862.1:p.Leu811Val
NM_001289936.2:c.2476C>G	NP_001276865.1:p.Leu826Val
NM_001289937.2:c.2521C>G	NP_001276866.1:p.Leu841Val
NM_001382782.1:c.2431C>G	NP_001369711.1:p.Leu811Val
NM_001382783.1:c.2431C>G	NP_001369712.1:p.Leu811Val
NM_001382784.1:c.2638C>G	NP_001369713.1:p.Leu880Val
NM_001382785.1:c.2623C>G	NP_001369714.1:p.Leu875Val
NM_001382786.1:c.2602C>G	NP_001369715.1:p.Leu868Val
NM_001382787.1:c.2596C>G	NP_001369716.1:p.Leu866Val
NM_001382788.1:c.2551C>G	NP_001369717.1:p.Leu851Val
NM_001382789.1:c.2542C>G	NP_001369718.1:p.Leu848Val
NM_001382790.1:c.2518C>G	NP_001369719.1:p.Leu840Val
NM_001382791.1:c.2512C>G	NP_001369720.1:p.Leu838Val
NM_001382792.1:c.2485C>G	NP_001369721.1:p.Leu829Val
NM_001382793.1:c.2479C>G	NP_001369722.1:p.Leu827Val
NM_001382794.1:c.2479C>G	NP_001369723.1:p.Leu827Val
NM_001382795.1:c.2473C>G	NP_001369724.1:p.Leu825Val
NM_001382796.1:c.2521C>G	NP_001369725.1:p.Leu841Val
NM_001382797.1:c.2422C>G	NP_001369726.1:p.Leu808Val
NM_001382798.1:c.2493+165C>G	NP_001369727.1:n.2493+165C>G
NM_001382799.1:c.2341C>G	NP_001369728.1:p.Leu781Val
NM_001382800.1:c.2335C>G	NP_001369729.1:p.Leu779Val
NM_001382801.1:c.2445+165C>G	NP_001369730.1:n.2445+165C>G
NM_001382802.1:c.2263C>G	NP_001369731.1:p.Leu755Val
NM_001382803.1:c.2479C>G	NP_001369732.1:p.Leu827Val
NM_001382804.1:c.1693C>G	NP_001369733.1:p.Leu565Val
NM_001382805.1:c.2208+1416C>G	NP_001369734.1:n.2208+1416C>G
NM_001382806.1:c.1483C>G	NP_001369735.1:p.Leu495Val
NM_004448.4:c.2521C>G MANE Select	NP_004439.2:p.Leu841Val
NR_110535.2:n.2759C>G