Canonical Allele Identifier: CA983629921

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059610343
• gnomAD v3: 17-39724238-GCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT-G
• gnomAD v4: 17-39724238-GCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724261_39724401del , CM000679.2:g.39724261_39724401del	GRCh38
NC_000017.10:g.37880514_37880654del , CM000679.1:g.37880514_37880654del	GRCh37
NC_000017.9:g.35134040_35134180del	NCBI36
NG_007503.1:g.41122_41262del , LRG_724:g.41122_41262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2307+251_2308-325del MANE Select	ENSP00000269571.4:n.2307+251_2308-325del
ENST00000269571.9:c.2307+251_2308-325del	ENSP00000269571.4:n.2307+251_2308-325del
ENST00000406381.6:c.2217+251_2218-325del	ENSP00000385185.2:n.2217+251_2218-325del
ENST00000445658.6:c.1479+251_1480-325del	ENSP00000404047.2:n.1479+251_1480-325del
ENST00000541774.5:c.2262+251_2263-325del	ENSP00000446466.1:n.2262+251_2263-325del
ENST00000578373.5:c.*2097+251_*2098-325del	ENSP00000463427.1:n.*2097+251_*2098-325del
ENST00000580074.1:c.413+251_414-325del
ENST00000583038.5:n.3441+251_3442-325del
ENST00000584450.5:c.2307+251_2308-325del	ENSP00000463714.1:n.2307+251_2308-325del
ENST00000584601.5:c.2217+251_2218-325del	ENSP00000462438.1:n.2217+251_2218-325del
NM_001005862.2:c.2217+251_2218-325del , LRG_724t1:c.2217+251_2218-325del	NP_001005862.1:n.2217+251_2218-325del
NM_001289936.1:c.2262+251_2263-325del , LRG_724t4:c.2262+251_2263-325del	NP_001276865.1:n.2262+251_2263-325del
NM_001289937.1:c.2307+251_2308-325del	NP_001276866.1:n.2307+251_2308-325del
NM_004448.3:c.2307+251_2308-325del , LRG_724t2:c.2307+251_2308-325del	NP_004439.2:n.2307+251_2308-325del
NR_110535.1:n.2631+251_2632-325del
XM_024450641.1:c.2445+251_2446-325del	XP_024306409.1:n.2445+251_2446-325del
XM_024450642.1:c.2400+251_2401-325del	XP_024306410.1:n.2400+251_2401-325del
XM_024450643.1:c.2355+251_2356-325del	XP_024306411.1:n.2355+251_2356-325del
NM_001005862.3:c.2217+251_2218-325del	NP_001005862.1:n.2217+251_2218-325del
NM_001289936.2:c.2262+251_2263-325del	NP_001276865.1:n.2262+251_2263-325del
NM_001289937.2:c.2307+251_2308-325del	NP_001276866.1:n.2307+251_2308-325del
NM_001382782.1:c.2217+251_2218-325del	NP_001369711.1:n.2217+251_2218-325del
NM_001382783.1:c.2217+251_2218-325del	NP_001369712.1:n.2217+251_2218-325del
NM_001382784.1:c.2424+251_2425-325del	NP_001369713.1:n.2424+251_2425-325del
NM_001382785.1:c.2409+251_2410-325del	NP_001369714.1:n.2409+251_2410-325del
NM_001382786.1:c.2388+251_2389-325del	NP_001369715.1:n.2388+251_2389-325del
NM_001382787.1:c.2382+251_2383-325del	NP_001369716.1:n.2382+251_2383-325del
NM_001382788.1:c.2337+251_2338-325del	NP_001369717.1:n.2337+251_2338-325del
NM_001382789.1:c.2328+251_2329-325del	NP_001369718.1:n.2328+251_2329-325del
NM_001382790.1:c.2304+251_2305-325del	NP_001369719.1:n.2304+251_2305-325del
NM_001382791.1:c.2298+251_2299-325del	NP_001369720.1:n.2298+251_2299-325del
NM_001382792.1:c.2271+251_2272-325del	NP_001369721.1:n.2271+251_2272-325del
NM_001382793.1:c.2265+251_2266-325del	NP_001369722.1:n.2265+251_2266-325del
NM_001382794.1:c.2265+251_2266-325del	NP_001369723.1:n.2265+251_2266-325del
NM_001382795.1:c.2259+251_2260-325del	NP_001369724.1:n.2259+251_2260-325del
NM_001382796.1:c.2307+251_2308-325del	NP_001369725.1:n.2307+251_2308-325del
NM_001382797.1:c.2209-465_2209-325del	NP_001369726.1:n.2209-465_2209-325del
NM_001382798.1:c.2307+251_2308-325del	NP_001369727.1:n.2307+251_2308-325del
NM_001382799.1:c.2127+251_2128-325del	NP_001369728.1:n.2127+251_2128-325del
NM_001382800.1:c.2307+251_2307+391del	NP_001369729.1:n.2307+251_2307+391del
NM_001382801.1:c.2259+251_2260-325del	NP_001369730.1:n.2259+251_2260-325del
NM_001382802.1:c.2049+251_2050-325del	NP_001369731.1:n.2049+251_2050-325del
NM_001382803.1:c.2265+251_2266-325del	NP_001369732.1:n.2265+251_2266-325del
NM_001382804.1:c.1479+251_1480-325del	NP_001369733.1:n.1479+251_1480-325del
NM_001382805.1:c.2208+601_2208+741del	NP_001369734.1:n.2208+601_2208+741del
NM_001382806.1:c.1269+251_1270-325del	NP_001369735.1:n.1269+251_1270-325del
NM_004448.4:c.2307+251_2308-325del MANE Select	NP_004439.2:n.2307+251_2308-325del
NR_110535.2:n.2545+251_2546-325del