Canonical Allele Identifier: CA8534305

Gene: ERBB2

Linked Data

• dbSNP Id: rs767164590
• ExAC: 17:37881155 G / C
• gnomAD v2: 17-37881155-G-C
• gnomAD v4: 17-39724902-G-C
• MyVariant Identifiers: chr17:g.37881155G>C (hg19) ; chr17:g.39724902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724902G>C , CM000679.2:g.39724902G>C	GRCh38
NC_000017.10:g.37881155G>C , CM000679.1:g.37881155G>C	GRCh37
NC_000017.9:g.35134681G>C	NCBI36
NG_007503.1:g.41763G>C , LRG_724:g.41763G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2484G>C MANE Select	ENSP00000269571.4:p.Gln828His
ENST00000269571.9:c.2484G>C	ENSP00000269571.4:p.Gln828His
ENST00000406381.6:c.2394G>C	ENSP00000385185.2:p.Gln798His
ENST00000445658.6:c.1656G>C	ENSP00000404047.2:p.Gln552His
ENST00000541774.5:c.2439G>C	ENSP00000446466.1:p.Gln813His
ENST00000578373.5:c.*2274G>C	ENSP00000463427.1:n.*2274G>C
ENST00000580074.1:c.590G>C
ENST00000583038.5:n.3618G>C
ENST00000584450.5:c.2484G>C	ENSP00000463714.1:p.Gln828His
ENST00000584601.5:c.2394G>C	ENSP00000462438.1:p.Gln798His
NM_001005862.2:c.2394G>C , LRG_724t1:c.2394G>C	NP_001005862.1:p.Gln798His
NM_001289936.1:c.2439G>C , LRG_724t4:c.2439G>C	NP_001276865.1:p.Gln813His
NM_001289937.1:c.2484G>C	NP_001276866.1:p.Gln828His
NM_004448.3:c.2484G>C , LRG_724t2:c.2484G>C	NP_004439.2:p.Gln828His
NR_110535.1:n.2808G>C
XM_024450641.1:c.2622G>C	XP_024306409.1:p.Gln874His
XM_024450642.1:c.2577G>C	XP_024306410.1:p.Gln859His
XM_024450643.1:c.2532G>C	XP_024306411.1:p.Gln844His
NM_001005862.3:c.2394G>C	NP_001005862.1:p.Gln798His
NM_001289936.2:c.2439G>C	NP_001276865.1:p.Gln813His
NM_001289937.2:c.2484G>C	NP_001276866.1:p.Gln828His
NM_001382782.1:c.2394G>C	NP_001369711.1:p.Gln798His
NM_001382783.1:c.2394G>C	NP_001369712.1:p.Gln798His
NM_001382784.1:c.2601G>C	NP_001369713.1:p.Gln867His
NM_001382785.1:c.2586G>C	NP_001369714.1:p.Gln862His
NM_001382786.1:c.2565G>C	NP_001369715.1:p.Gln855His
NM_001382787.1:c.2559G>C	NP_001369716.1:p.Gln853His
NM_001382788.1:c.2514G>C	NP_001369717.1:p.Gln838His
NM_001382789.1:c.2505G>C	NP_001369718.1:p.Gln835His
NM_001382790.1:c.2481G>C	NP_001369719.1:p.Gln827His
NM_001382791.1:c.2475G>C	NP_001369720.1:p.Gln825His
NM_001382792.1:c.2448G>C	NP_001369721.1:p.Gln816His
NM_001382793.1:c.2442G>C	NP_001369722.1:p.Gln814His
NM_001382794.1:c.2442G>C	NP_001369723.1:p.Gln814His
NM_001382795.1:c.2436G>C	NP_001369724.1:p.Gln812His
NM_001382796.1:c.2484G>C	NP_001369725.1:p.Gln828His
NM_001382797.1:c.2385G>C	NP_001369726.1:p.Gln795His
NM_001382798.1:c.2484G>C	NP_001369727.1:p.Gln828His
NM_001382799.1:c.2304G>C	NP_001369728.1:p.Gln768His
NM_001382800.1:c.2308-147G>C	NP_001369729.1:n.2308-147G>C
NM_001382801.1:c.2436G>C	NP_001369730.1:p.Gln812His
NM_001382802.1:c.2226G>C	NP_001369731.1:p.Gln742His
NM_001382803.1:c.2442G>C	NP_001369732.1:p.Gln814His
NM_001382804.1:c.1656G>C	NP_001369733.1:p.Gln552His
NM_001382805.1:c.2208+1242G>C	NP_001369734.1:n.2208+1242G>C
NM_001382806.1:c.1446G>C	NP_001369735.1:p.Gln482His
NM_004448.4:c.2484G>C MANE Select	NP_004439.2:p.Gln828His
NR_110535.2:n.2722G>C