Canonical Allele Identifier: CA399304413

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1473292
• ClinVar RCV Id: RCV001977488
• dbSNP Id: rs2145863965
• MyVariant Identifiers: chr17:g.37881350G>A (hg19) ; chr17:g.39725097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725097G>A , CM000679.2:g.39725097G>A	GRCh38
NC_000017.10:g.37881350G>A , CM000679.1:g.37881350G>A	GRCh37
NC_000017.9:g.35134876G>A	NCBI36
NG_007503.1:g.41958G>A , LRG_724:g.41958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2542G>A MANE Select	ENSP00000269571.4:p.Ala848Thr
ENST00000269571.9:c.2542G>A	ENSP00000269571.4:p.Ala848Thr
ENST00000406381.6:c.2452G>A	ENSP00000385185.2:p.Ala818Thr
ENST00000445658.6:c.1714G>A	ENSP00000404047.2:p.Ala572Thr
ENST00000541774.5:c.2497G>A	ENSP00000446466.1:p.Ala833Thr
ENST00000578373.5:c.*2332G>A	ENSP00000463427.1:n.*2332G>A
ENST00000580074.1:c.648G>A
ENST00000583038.5:n.3676G>A
ENST00000584450.5:c.2542G>A	ENSP00000463714.1:p.Ala848Thr
ENST00000584601.5:c.2452G>A	ENSP00000462438.1:p.Ala818Thr
NM_001005862.2:c.2452G>A , LRG_724t1:c.2452G>A	NP_001005862.1:p.Ala818Thr
NM_001289936.1:c.2497G>A , LRG_724t4:c.2497G>A	NP_001276865.1:p.Ala833Thr
NM_001289937.1:c.2542G>A	NP_001276866.1:p.Ala848Thr
NM_004448.3:c.2542G>A , LRG_724t2:c.2542G>A	NP_004439.2:p.Ala848Thr
NR_110535.1:n.2866G>A
XM_024450641.1:c.2680G>A	XP_024306409.1:p.Ala894Thr
XM_024450642.1:c.2635G>A	XP_024306410.1:p.Ala879Thr
XM_024450643.1:c.2590G>A	XP_024306411.1:p.Ala864Thr
NM_001005862.3:c.2452G>A	NP_001005862.1:p.Ala818Thr
NM_001289936.2:c.2497G>A	NP_001276865.1:p.Ala833Thr
NM_001289937.2:c.2542G>A	NP_001276866.1:p.Ala848Thr
NM_001382782.1:c.2452G>A	NP_001369711.1:p.Ala818Thr
NM_001382783.1:c.2452G>A	NP_001369712.1:p.Ala818Thr
NM_001382784.1:c.2659G>A	NP_001369713.1:p.Ala887Thr
NM_001382785.1:c.2644G>A	NP_001369714.1:p.Ala882Thr
NM_001382786.1:c.2623G>A	NP_001369715.1:p.Ala875Thr
NM_001382787.1:c.2617G>A	NP_001369716.1:p.Ala873Thr
NM_001382788.1:c.2572G>A	NP_001369717.1:p.Ala858Thr
NM_001382789.1:c.2563G>A	NP_001369718.1:p.Ala855Thr
NM_001382790.1:c.2539G>A	NP_001369719.1:p.Ala847Thr
NM_001382791.1:c.2533G>A	NP_001369720.1:p.Ala845Thr
NM_001382792.1:c.2506G>A	NP_001369721.1:p.Ala836Thr
NM_001382793.1:c.2500G>A	NP_001369722.1:p.Ala834Thr
NM_001382794.1:c.2500G>A	NP_001369723.1:p.Ala834Thr
NM_001382795.1:c.2494G>A	NP_001369724.1:p.Ala832Thr
NM_001382796.1:c.2542G>A	NP_001369725.1:p.Ala848Thr
NM_001382797.1:c.2443G>A	NP_001369726.1:p.Ala815Thr
NM_001382798.1:c.2493+186G>A	NP_001369727.1:n.2493+186G>A
NM_001382799.1:c.2362G>A	NP_001369728.1:p.Ala788Thr
NM_001382800.1:c.2356G>A	NP_001369729.1:p.Ala786Thr
NM_001382801.1:c.2445+186G>A	NP_001369730.1:n.2445+186G>A
NM_001382802.1:c.2284G>A	NP_001369731.1:p.Ala762Thr
NM_001382803.1:c.2500G>A	NP_001369732.1:p.Ala834Thr
NM_001382804.1:c.1714G>A	NP_001369733.1:p.Ala572Thr
NM_001382805.1:c.2208+1437G>A	NP_001369734.1:n.2208+1437G>A
NM_001382806.1:c.1504G>A	NP_001369735.1:p.Ala502Thr
NM_004448.4:c.2542G>A MANE Select	NP_004439.2:p.Ala848Thr
NR_110535.2:n.2780G>A