Canonical Allele Identifier: CA399304112

Gene: ERBB2

Linked Data

• dbSNP Id: rs104886008
• MyVariant Identifiers: chr17:g.37881314C>G (hg19) ; chr17:g.39725061C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725061C>G , CM000679.2:g.39725061C>G	GRCh38
NC_000017.10:g.37881314C>G , CM000679.1:g.37881314C>G	GRCh37
NC_000017.9:g.35134840C>G	NCBI36
NG_007503.1:g.41922C>G , LRG_724:g.41922C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2506C>G MANE Select	ENSP00000269571.4:p.Leu836Val
ENST00000269571.9:c.2506C>G	ENSP00000269571.4:p.Leu836Val
ENST00000406381.6:c.2416C>G	ENSP00000385185.2:p.Leu806Val
ENST00000445658.6:c.1678C>G	ENSP00000404047.2:p.Leu560Val
ENST00000541774.5:c.2461C>G	ENSP00000446466.1:p.Leu821Val
ENST00000578373.5:c.*2296C>G	ENSP00000463427.1:n.*2296C>G
ENST00000580074.1:c.612C>G
ENST00000583038.5:n.3640C>G
ENST00000584450.5:c.2506C>G	ENSP00000463714.1:p.Leu836Val
ENST00000584601.5:c.2416C>G	ENSP00000462438.1:p.Leu806Val
NM_001005862.2:c.2416C>G , LRG_724t1:c.2416C>G	NP_001005862.1:p.Leu806Val
NM_001289936.1:c.2461C>G , LRG_724t4:c.2461C>G	NP_001276865.1:p.Leu821Val
NM_001289937.1:c.2506C>G	NP_001276866.1:p.Leu836Val
NM_004448.3:c.2506C>G , LRG_724t2:c.2506C>G	NP_004439.2:p.Leu836Val
NR_110535.1:n.2830C>G
XM_024450641.1:c.2644C>G	XP_024306409.1:p.Leu882Val
XM_024450642.1:c.2599C>G	XP_024306410.1:p.Leu867Val
XM_024450643.1:c.2554C>G	XP_024306411.1:p.Leu852Val
NM_001005862.3:c.2416C>G	NP_001005862.1:p.Leu806Val
NM_001289936.2:c.2461C>G	NP_001276865.1:p.Leu821Val
NM_001289937.2:c.2506C>G	NP_001276866.1:p.Leu836Val
NM_001382782.1:c.2416C>G	NP_001369711.1:p.Leu806Val
NM_001382783.1:c.2416C>G	NP_001369712.1:p.Leu806Val
NM_001382784.1:c.2623C>G	NP_001369713.1:p.Leu875Val
NM_001382785.1:c.2608C>G	NP_001369714.1:p.Leu870Val
NM_001382786.1:c.2587C>G	NP_001369715.1:p.Leu863Val
NM_001382787.1:c.2581C>G	NP_001369716.1:p.Leu861Val
NM_001382788.1:c.2536C>G	NP_001369717.1:p.Leu846Val
NM_001382789.1:c.2527C>G	NP_001369718.1:p.Leu843Val
NM_001382790.1:c.2503C>G	NP_001369719.1:p.Leu835Val
NM_001382791.1:c.2497C>G	NP_001369720.1:p.Leu833Val
NM_001382792.1:c.2470C>G	NP_001369721.1:p.Leu824Val
NM_001382793.1:c.2464C>G	NP_001369722.1:p.Leu822Val
NM_001382794.1:c.2464C>G	NP_001369723.1:p.Leu822Val
NM_001382795.1:c.2458C>G	NP_001369724.1:p.Leu820Val
NM_001382796.1:c.2506C>G	NP_001369725.1:p.Leu836Val
NM_001382797.1:c.2407C>G	NP_001369726.1:p.Leu803Val
NM_001382798.1:c.2493+150C>G	NP_001369727.1:n.2493+150C>G
NM_001382799.1:c.2326C>G	NP_001369728.1:p.Leu776Val
NM_001382800.1:c.2320C>G	NP_001369729.1:p.Leu774Val
NM_001382801.1:c.2445+150C>G	NP_001369730.1:n.2445+150C>G
NM_001382802.1:c.2248C>G	NP_001369731.1:p.Leu750Val
NM_001382803.1:c.2464C>G	NP_001369732.1:p.Leu822Val
NM_001382804.1:c.1678C>G	NP_001369733.1:p.Leu560Val
NM_001382805.1:c.2208+1401C>G	NP_001369734.1:n.2208+1401C>G
NM_001382806.1:c.1468C>G	NP_001369735.1:p.Leu490Val
NM_004448.4:c.2506C>G MANE Select	NP_004439.2:p.Leu836Val
NR_110535.2:n.2744C>G