Canonical Allele Identifier: CA983629962

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059614243
• gnomAD v3: 17-39724270-TAA-T
• gnomAD v4: 17-39724270-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724271_39724272del , CM000679.2:g.39724271_39724272del	GRCh38
NC_000017.10:g.37880524_37880525del , CM000679.1:g.37880524_37880525del	GRCh37
NC_000017.9:g.35134050_35134051del	NCBI36
NG_007503.1:g.41132_41133del , LRG_724:g.41132_41133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2307+261_2307+262del MANE Select	ENSP00000269571.4:n.2307+261_2307+262del
ENST00000269571.9:c.2307+261_2307+262del	ENSP00000269571.4:n.2307+261_2307+262del
ENST00000406381.6:c.2217+261_2217+262del	ENSP00000385185.2:n.2217+261_2217+262del
ENST00000445658.6:c.1479+261_1479+262del	ENSP00000404047.2:n.1479+261_1479+262del
ENST00000541774.5:c.2262+261_2262+262del	ENSP00000446466.1:n.2262+261_2262+262del
ENST00000578373.5:c.*2097+261_*2097+262del	ENSP00000463427.1:n.*2097+261_*2097+262del
ENST00000580074.1:c.413+261_413+262del
ENST00000583038.5:n.3441+261_3441+262del
ENST00000584450.5:c.2307+261_2307+262del	ENSP00000463714.1:n.2307+261_2307+262del
ENST00000584601.5:c.2217+261_2217+262del	ENSP00000462438.1:n.2217+261_2217+262del
NM_001005862.2:c.2217+261_2217+262del , LRG_724t1:c.2217+261_2217+262del	NP_001005862.1:n.2217+261_2217+262del
NM_001289936.1:c.2262+261_2262+262del , LRG_724t4:c.2262+261_2262+262del	NP_001276865.1:n.2262+261_2262+262del
NM_001289937.1:c.2307+261_2307+262del	NP_001276866.1:n.2307+261_2307+262del
NM_004448.3:c.2307+261_2307+262del , LRG_724t2:c.2307+261_2307+262del	NP_004439.2:n.2307+261_2307+262del
NR_110535.1:n.2631+261_2631+262del
XM_024450641.1:c.2445+261_2445+262del	XP_024306409.1:n.2445+261_2445+262del
XM_024450642.1:c.2400+261_2400+262del	XP_024306410.1:n.2400+261_2400+262del
XM_024450643.1:c.2355+261_2355+262del	XP_024306411.1:n.2355+261_2355+262del
NM_001005862.3:c.2217+261_2217+262del	NP_001005862.1:n.2217+261_2217+262del
NM_001289936.2:c.2262+261_2262+262del	NP_001276865.1:n.2262+261_2262+262del
NM_001289937.2:c.2307+261_2307+262del	NP_001276866.1:n.2307+261_2307+262del
NM_001382782.1:c.2217+261_2217+262del	NP_001369711.1:n.2217+261_2217+262del
NM_001382783.1:c.2217+261_2217+262del	NP_001369712.1:n.2217+261_2217+262del
NM_001382784.1:c.2424+261_2424+262del	NP_001369713.1:n.2424+261_2424+262del
NM_001382785.1:c.2409+261_2409+262del	NP_001369714.1:n.2409+261_2409+262del
NM_001382786.1:c.2388+261_2388+262del	NP_001369715.1:n.2388+261_2388+262del
NM_001382787.1:c.2382+261_2382+262del	NP_001369716.1:n.2382+261_2382+262del
NM_001382788.1:c.2337+261_2337+262del	NP_001369717.1:n.2337+261_2337+262del
NM_001382789.1:c.2328+261_2328+262del	NP_001369718.1:n.2328+261_2328+262del
NM_001382790.1:c.2304+261_2304+262del	NP_001369719.1:n.2304+261_2304+262del
NM_001382791.1:c.2298+261_2298+262del	NP_001369720.1:n.2298+261_2298+262del
NM_001382792.1:c.2271+261_2271+262del	NP_001369721.1:n.2271+261_2271+262del
NM_001382793.1:c.2265+261_2265+262del	NP_001369722.1:n.2265+261_2265+262del
NM_001382794.1:c.2265+261_2265+262del	NP_001369723.1:n.2265+261_2265+262del
NM_001382795.1:c.2259+261_2259+262del	NP_001369724.1:n.2259+261_2259+262del
NM_001382796.1:c.2307+261_2307+262del	NP_001369725.1:n.2307+261_2307+262del
NM_001382797.1:c.2209-455_2209-454del	NP_001369726.1:n.2209-455_2209-454del
NM_001382798.1:c.2307+261_2307+262del	NP_001369727.1:n.2307+261_2307+262del
NM_001382799.1:c.2127+261_2127+262del	NP_001369728.1:n.2127+261_2127+262del
NM_001382800.1:c.2307+261_2307+262del	NP_001369729.1:n.2307+261_2307+262del
NM_001382801.1:c.2259+261_2259+262del	NP_001369730.1:n.2259+261_2259+262del
NM_001382802.1:c.2049+261_2049+262del	NP_001369731.1:n.2049+261_2049+262del
NM_001382803.1:c.2265+261_2265+262del	NP_001369732.1:n.2265+261_2265+262del
NM_001382804.1:c.1479+261_1479+262del	NP_001369733.1:n.1479+261_1479+262del
NM_001382805.1:c.2208+611_2208+612del	NP_001369734.1:n.2208+611_2208+612del
NM_001382806.1:c.1269+261_1269+262del	NP_001369735.1:n.1269+261_1269+262del
NM_004448.4:c.2307+261_2307+262del MANE Select	NP_004439.2:n.2307+261_2307+262del
NR_110535.2:n.2545+261_2545+262del