Canonical Allele Identifier: CA499890115

Gene: ERBB2

Linked Data

• dbSNP Id: rs140231769
• gnomAD v2: 17-37881349-C-A
• gnomAD v3: 17-39725096-C-A
• gnomAD v4: 17-39725096-C-A
• MyVariant Identifiers: chr17:g.37881349C>A (hg19) ; chr17:g.39725096C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725096C>A , CM000679.2:g.39725096C>A	GRCh38
NC_000017.10:g.37881349C>A , CM000679.1:g.37881349C>A	GRCh37
NC_000017.9:g.35134875C>A	NCBI36
NG_007503.1:g.41957C>A , LRG_724:g.41957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2541C>A MANE Select	ENSP00000269571.4:p.Ala847=
ENST00000269571.9:c.2541C>A	ENSP00000269571.4:p.Ala847=
ENST00000406381.6:c.2451C>A	ENSP00000385185.2:p.Ala817=
ENST00000445658.6:c.1713C>A	ENSP00000404047.2:p.Ala571=
ENST00000541774.5:c.2496C>A	ENSP00000446466.1:p.Ala832=
ENST00000578373.5:c.*2331C>A	ENSP00000463427.1:n.*2331C>A
ENST00000580074.1:c.647C>A
ENST00000583038.5:n.3675C>A
ENST00000584450.5:c.2541C>A	ENSP00000463714.1:p.Ala847=
ENST00000584601.5:c.2451C>A	ENSP00000462438.1:p.Ala817=
NM_001005862.2:c.2451C>A , LRG_724t1:c.2451C>A	NP_001005862.1:p.Ala817=
NM_001289936.1:c.2496C>A , LRG_724t4:c.2496C>A	NP_001276865.1:p.Ala832=
NM_001289937.1:c.2541C>A	NP_001276866.1:p.Ala847=
NM_004448.3:c.2541C>A , LRG_724t2:c.2541C>A	NP_004439.2:p.Ala847=
NR_110535.1:n.2865C>A
XM_024450641.1:c.2679C>A	XP_024306409.1:p.Ala893=
XM_024450642.1:c.2634C>A	XP_024306410.1:p.Ala878=
XM_024450643.1:c.2589C>A	XP_024306411.1:p.Ala863=
NM_001005862.3:c.2451C>A	NP_001005862.1:p.Ala817=
NM_001289936.2:c.2496C>A	NP_001276865.1:p.Ala832=
NM_001289937.2:c.2541C>A	NP_001276866.1:p.Ala847=
NM_001382782.1:c.2451C>A	NP_001369711.1:p.Ala817=
NM_001382783.1:c.2451C>A	NP_001369712.1:p.Ala817=
NM_001382784.1:c.2658C>A	NP_001369713.1:p.Ala886=
NM_001382785.1:c.2643C>A	NP_001369714.1:p.Ala881=
NM_001382786.1:c.2622C>A	NP_001369715.1:p.Ala874=
NM_001382787.1:c.2616C>A	NP_001369716.1:p.Ala872=
NM_001382788.1:c.2571C>A	NP_001369717.1:p.Ala857=
NM_001382789.1:c.2562C>A	NP_001369718.1:p.Ala854=
NM_001382790.1:c.2538C>A	NP_001369719.1:p.Ala846=
NM_001382791.1:c.2532C>A	NP_001369720.1:p.Ala844=
NM_001382792.1:c.2505C>A	NP_001369721.1:p.Ala835=
NM_001382793.1:c.2499C>A	NP_001369722.1:p.Ala833=
NM_001382794.1:c.2499C>A	NP_001369723.1:p.Ala833=
NM_001382795.1:c.2493C>A	NP_001369724.1:p.Ala831=
NM_001382796.1:c.2541C>A	NP_001369725.1:p.Ala847=
NM_001382797.1:c.2442C>A	NP_001369726.1:p.Ala814=
NM_001382798.1:c.2493+185C>A	NP_001369727.1:n.2493+185C>A
NM_001382799.1:c.2361C>A	NP_001369728.1:p.Ala787=
NM_001382800.1:c.2355C>A	NP_001369729.1:p.Ala785=
NM_001382801.1:c.2445+185C>A	NP_001369730.1:n.2445+185C>A
NM_001382802.1:c.2283C>A	NP_001369731.1:p.Ala761=
NM_001382803.1:c.2499C>A	NP_001369732.1:p.Ala833=
NM_001382804.1:c.1713C>A	NP_001369733.1:p.Ala571=
NM_001382805.1:c.2208+1436C>A	NP_001369734.1:n.2208+1436C>A
NM_001382806.1:c.1503C>A	NP_001369735.1:p.Ala501=
NM_004448.4:c.2541C>A MANE Select	NP_004439.2:p.Ala847=
NR_110535.2:n.2779C>A