Canonical Allele Identifier: CA8534216
Gene: ERBB2 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723509G>A , CM000679.2:g.39723509G>A GRCh38
NC_000017.10:g.37879762G>A , CM000679.1:g.37879762G>A GRCh37
NC_000017.9:g.35133288G>A NCBI36
NG_007503.1:g.40370G>A , LRG_724:g.40370G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2086-29G>A MANE Select ENSP00000269571.4:n.2086-29G>A
ENST00000269571.9:c.2086-29G>A ENSP00000269571.4:n.2086-29G>A
ENST00000406381.6:c.1996-29G>A ENSP00000385185.2:n.1996-29G>A
ENST00000445658.6:c.1258-29G>A ENSP00000404047.2:n.1258-29G>A
ENST00000541774.5:c.2041-29G>A ENSP00000446466.1:n.2041-29G>A
ENST00000578373.5:c.*1876-29G>A ENSP00000463427.1:n.*1876-29G>A
ENST00000578630.1:n.695-29G>A
ENST00000580074.1:c.192-29G>A
ENST00000582818.5:c.404-29G>A
ENST00000583038.5:n.3220-29G>A
ENST00000584450.5:c.2086-29G>A ENSP00000463714.1:n.2086-29G>A
ENST00000584601.5:c.1996-29G>A ENSP00000462438.1:n.1996-29G>A
NM_001005862.2:c.1996-29G>A , LRG_724t1:c.1996-29G>A NP_001005862.1:n.1996-29G>A
NM_001289936.1:c.2041-29G>A , LRG_724t4:c.2041-29G>A NP_001276865.1:n.2041-29G>A
NM_001289937.1:c.2086-29G>A NP_001276866.1:n.2086-29G>A
NM_004448.3:c.2086-29G>A , LRG_724t2:c.2086-29G>A NP_004439.2:n.2086-29G>A
NR_110535.1:n.2410-29G>A
XM_024450641.1:c.2224-29G>A XP_024306409.1:n.2224-29G>A
XM_024450642.1:c.2179-29G>A XP_024306410.1:n.2179-29G>A
XM_024450643.1:c.2134-29G>A XP_024306411.1:n.2134-29G>A
NM_001005862.3:c.1996-29G>A NP_001005862.1:n.1996-29G>A
NM_001289936.2:c.2041-29G>A NP_001276865.1:n.2041-29G>A
NM_001289937.2:c.2086-29G>A NP_001276866.1:n.2086-29G>A
NM_001382782.1:c.1996-29G>A NP_001369711.1:n.1996-29G>A
NM_001382783.1:c.1996-29G>A NP_001369712.1:n.1996-29G>A
NM_001382784.1:c.2203-29G>A NP_001369713.1:n.2203-29G>A
NM_001382785.1:c.2188-29G>A NP_001369714.1:n.2188-29G>A
NM_001382786.1:c.2203-29G>A NP_001369715.1:n.2203-29G>A
NM_001382787.1:c.2161-29G>A NP_001369716.1:n.2161-29G>A
NM_001382788.1:c.2116-29G>A NP_001369717.1:n.2116-29G>A
NM_001382789.1:c.2107-29G>A NP_001369718.1:n.2107-29G>A
NM_001382790.1:c.2083-29G>A NP_001369719.1:n.2083-29G>A
NM_001382791.1:c.2077-29G>A NP_001369720.1:n.2077-29G>A
NM_001382792.1:c.2086-29G>A NP_001369721.1:n.2086-29G>A
NM_001382793.1:c.2086-29G>A NP_001369722.1:n.2086-29G>A
NM_001382794.1:c.2085+52G>A NP_001369723.1:n.2085+52G>A
NM_001382795.1:c.2038-29G>A NP_001369724.1:n.2038-29G>A
NM_001382796.1:c.2086-29G>A NP_001369725.1:n.2086-29G>A
NM_001382797.1:c.2086-29G>A NP_001369726.1:n.2086-29G>A
NM_001382798.1:c.2086-29G>A NP_001369727.1:n.2086-29G>A
NM_001382799.1:c.1906-29G>A NP_001369728.1:n.1906-29G>A
NM_001382800.1:c.2086-29G>A NP_001369729.1:n.2086-29G>A
NM_001382801.1:c.2038-29G>A NP_001369730.1:n.2038-29G>A
NM_001382802.1:c.1828-29G>A NP_001369731.1:n.1828-29G>A
NM_001382803.1:c.2086-29G>A NP_001369732.1:n.2086-29G>A
NM_001382804.1:c.1258-29G>A NP_001369733.1:n.1258-29G>A
NM_001382805.1:c.2086-29G>A NP_001369734.1:n.2086-29G>A
NM_001382806.1:c.1223-455G>A NP_001369735.1:n.1223-455G>A
NM_004448.4:c.2086-29G>A MANE Select NP_004439.2:n.2086-29G>A
NR_110535.2:n.2324-29G>A