Canonical Allele Identifier: CA499890157

Gene: ERBB2

Linked Data

• dbSNP Id: rs1443431488
• gnomAD v2: 17-37881379-C-T
• gnomAD v3: 17-39725126-C-T
• gnomAD v4: 17-39725126-C-T
• MyVariant Identifiers: chr17:g.37881379C>T (hg19) ; chr17:g.39725126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725126C>T , CM000679.2:g.39725126C>T	GRCh38
NC_000017.10:g.37881379C>T , CM000679.1:g.37881379C>T	GRCh37
NC_000017.9:g.35134905C>T	NCBI36
NG_007503.1:g.41987C>T , LRG_724:g.41987C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2571C>T MANE Select	ENSP00000269571.4:p.Asn857=
ENST00000269571.9:c.2571C>T	ENSP00000269571.4:p.Asn857=
ENST00000406381.6:c.2481C>T	ENSP00000385185.2:p.Asn827=
ENST00000445658.6:c.1743C>T	ENSP00000404047.2:p.Asn581=
ENST00000541774.5:c.2526C>T	ENSP00000446466.1:p.Asn842=
ENST00000578373.5:c.*2361C>T	ENSP00000463427.1:n.*2361C>T
ENST00000580074.1:c.677C>T
ENST00000583038.5:n.3705C>T
ENST00000584450.5:c.2571C>T	ENSP00000463714.1:p.Asn857=
ENST00000584601.5:c.2481C>T	ENSP00000462438.1:p.Asn827=
NM_001005862.2:c.2481C>T , LRG_724t1:c.2481C>T	NP_001005862.1:p.Asn827=
NM_001289936.1:c.2526C>T , LRG_724t4:c.2526C>T	NP_001276865.1:p.Asn842=
NM_001289937.1:c.2571C>T	NP_001276866.1:p.Asn857=
NM_004448.3:c.2571C>T , LRG_724t2:c.2571C>T	NP_004439.2:p.Asn857=
NR_110535.1:n.2895C>T
XM_024450641.1:c.2709C>T	XP_024306409.1:p.Asn903=
XM_024450642.1:c.2664C>T	XP_024306410.1:p.Asn888=
XM_024450643.1:c.2619C>T	XP_024306411.1:p.Asn873=
NM_001005862.3:c.2481C>T	NP_001005862.1:p.Asn827=
NM_001289936.2:c.2526C>T	NP_001276865.1:p.Asn842=
NM_001289937.2:c.2571C>T	NP_001276866.1:p.Asn857=
NM_001382782.1:c.2481C>T	NP_001369711.1:p.Asn827=
NM_001382783.1:c.2481C>T	NP_001369712.1:p.Asn827=
NM_001382784.1:c.2688C>T	NP_001369713.1:p.Asn896=
NM_001382785.1:c.2673C>T	NP_001369714.1:p.Asn891=
NM_001382786.1:c.2652C>T	NP_001369715.1:p.Asn884=
NM_001382787.1:c.2646C>T	NP_001369716.1:p.Asn882=
NM_001382788.1:c.2601C>T	NP_001369717.1:p.Asn867=
NM_001382789.1:c.2592C>T	NP_001369718.1:p.Asn864=
NM_001382790.1:c.2568C>T	NP_001369719.1:p.Asn856=
NM_001382791.1:c.2562C>T	NP_001369720.1:p.Asn854=
NM_001382792.1:c.2535C>T	NP_001369721.1:p.Asn845=
NM_001382793.1:c.2529C>T	NP_001369722.1:p.Asn843=
NM_001382794.1:c.2529C>T	NP_001369723.1:p.Asn843=
NM_001382795.1:c.2523C>T	NP_001369724.1:p.Asn841=
NM_001382796.1:c.2571C>T	NP_001369725.1:p.Asn857=
NM_001382797.1:c.2472C>T	NP_001369726.1:p.Asn824=
NM_001382798.1:c.2494-201C>T	NP_001369727.1:n.2494-201C>T
NM_001382799.1:c.2391C>T	NP_001369728.1:p.Asn797=
NM_001382800.1:c.2385C>T	NP_001369729.1:p.Asn795=
NM_001382801.1:c.2446-201C>T	NP_001369730.1:n.2446-201C>T
NM_001382802.1:c.2313C>T	NP_001369731.1:p.Asn771=
NM_001382803.1:c.2529C>T	NP_001369732.1:p.Asn843=
NM_001382804.1:c.1743C>T	NP_001369733.1:p.Asn581=
NM_001382805.1:c.2208+1466C>T	NP_001369734.1:n.2208+1466C>T
NM_001382806.1:c.1533C>T	NP_001369735.1:p.Asn511=
NM_004448.4:c.2571C>T MANE Select	NP_004439.2:p.Asn857=
NR_110535.2:n.2809C>T