Canonical Allele Identifier: CA8534327

Gene: ERBB2

Linked Data

• dbSNP Id: rs776236294
• ExAC: 17:37881358 C / T
• gnomAD v2: 17-37881358-C-T
• gnomAD v3: 17-39725105-C-T
• gnomAD v4: 17-39725105-C-T
• COSMIC: COSM327268
• MyVariant Identifiers: chr17:g.37881358C>T (hg19) ; chr17:g.39725105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725105C>T , CM000679.2:g.39725105C>T	GRCh38
NC_000017.10:g.37881358C>T , CM000679.1:g.37881358C>T	GRCh37
NC_000017.9:g.35134884C>T	NCBI36
NG_007503.1:g.41966C>T , LRG_724:g.41966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2550C>T MANE Select	ENSP00000269571.4:p.Asn850=
ENST00000269571.9:c.2550C>T	ENSP00000269571.4:p.Asn850=
ENST00000406381.6:c.2460C>T	ENSP00000385185.2:p.Asn820=
ENST00000445658.6:c.1722C>T	ENSP00000404047.2:p.Asn574=
ENST00000541774.5:c.2505C>T	ENSP00000446466.1:p.Asn835=
ENST00000578373.5:c.*2340C>T	ENSP00000463427.1:n.*2340C>T
ENST00000580074.1:c.656C>T
ENST00000583038.5:n.3684C>T
ENST00000584450.5:c.2550C>T	ENSP00000463714.1:p.Asn850=
ENST00000584601.5:c.2460C>T	ENSP00000462438.1:p.Asn820=
NM_001005862.2:c.2460C>T , LRG_724t1:c.2460C>T	NP_001005862.1:p.Asn820=
NM_001289936.1:c.2505C>T , LRG_724t4:c.2505C>T	NP_001276865.1:p.Asn835=
NM_001289937.1:c.2550C>T	NP_001276866.1:p.Asn850=
NM_004448.3:c.2550C>T , LRG_724t2:c.2550C>T	NP_004439.2:p.Asn850=
NR_110535.1:n.2874C>T
XM_024450641.1:c.2688C>T	XP_024306409.1:p.Asn896=
XM_024450642.1:c.2643C>T	XP_024306410.1:p.Asn881=
XM_024450643.1:c.2598C>T	XP_024306411.1:p.Asn866=
NM_001005862.3:c.2460C>T	NP_001005862.1:p.Asn820=
NM_001289936.2:c.2505C>T	NP_001276865.1:p.Asn835=
NM_001289937.2:c.2550C>T	NP_001276866.1:p.Asn850=
NM_001382782.1:c.2460C>T	NP_001369711.1:p.Asn820=
NM_001382783.1:c.2460C>T	NP_001369712.1:p.Asn820=
NM_001382784.1:c.2667C>T	NP_001369713.1:p.Asn889=
NM_001382785.1:c.2652C>T	NP_001369714.1:p.Asn884=
NM_001382786.1:c.2631C>T	NP_001369715.1:p.Asn877=
NM_001382787.1:c.2625C>T	NP_001369716.1:p.Asn875=
NM_001382788.1:c.2580C>T	NP_001369717.1:p.Asn860=
NM_001382789.1:c.2571C>T	NP_001369718.1:p.Asn857=
NM_001382790.1:c.2547C>T	NP_001369719.1:p.Asn849=
NM_001382791.1:c.2541C>T	NP_001369720.1:p.Asn847=
NM_001382792.1:c.2514C>T	NP_001369721.1:p.Asn838=
NM_001382793.1:c.2508C>T	NP_001369722.1:p.Asn836=
NM_001382794.1:c.2508C>T	NP_001369723.1:p.Asn836=
NM_001382795.1:c.2502C>T	NP_001369724.1:p.Asn834=
NM_001382796.1:c.2550C>T	NP_001369725.1:p.Asn850=
NM_001382797.1:c.2451C>T	NP_001369726.1:p.Asn817=
NM_001382798.1:c.2493+194C>T	NP_001369727.1:n.2493+194C>T
NM_001382799.1:c.2370C>T	NP_001369728.1:p.Asn790=
NM_001382800.1:c.2364C>T	NP_001369729.1:p.Asn788=
NM_001382801.1:c.2445+194C>T	NP_001369730.1:n.2445+194C>T
NM_001382802.1:c.2292C>T	NP_001369731.1:p.Asn764=
NM_001382803.1:c.2508C>T	NP_001369732.1:p.Asn836=
NM_001382804.1:c.1722C>T	NP_001369733.1:p.Asn574=
NM_001382805.1:c.2208+1445C>T	NP_001369734.1:n.2208+1445C>T
NM_001382806.1:c.1512C>T	NP_001369735.1:p.Asn504=
NM_004448.4:c.2550C>T MANE Select	NP_004439.2:p.Asn850=
NR_110535.2:n.2788C>T