Canonical Allele Identifier: CA399310818

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143247797
• MyVariant Identifiers: chr17:g.37883684A>T (hg19) ; chr17:g.39727431A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727431A>T , CM000679.2:g.39727431A>T	GRCh38
NC_000017.10:g.37883684A>T , CM000679.1:g.37883684A>T	GRCh37
NC_000017.9:g.35137210A>T	NCBI36
NG_007503.1:g.44292A>T , LRG_724:g.44292A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3296A>T MANE Select	ENSP00000269571.4:p.Gln1099Leu
ENST00000269571.9:c.3296A>T	ENSP00000269571.4:p.Gln1099Leu
ENST00000406381.6:c.3206A>T	ENSP00000385185.2:p.Gln1069Leu
ENST00000445658.6:c.2468A>T	ENSP00000404047.2:p.Gln823Leu
ENST00000541774.5:c.3251A>T	ENSP00000446466.1:p.Gln1084Leu
ENST00000578373.5:c.*3086A>T	ENSP00000463427.1:n.*3086A>T
ENST00000584450.5:c.3160-258A>T	ENSP00000463714.1:n.3160-258A>T
ENST00000584601.5:c.3206A>T	ENSP00000462438.1:p.Gln1069Leu
NM_001005862.2:c.3206A>T , LRG_724t1:c.3206A>T	NP_001005862.1:p.Gln1069Leu
NM_001289936.1:c.3251A>T , LRG_724t4:c.3251A>T	NP_001276865.1:p.Gln1084Leu
NM_001289937.1:c.3160-258A>T	NP_001276866.1:n.3160-258A>T
NM_004448.3:c.3296A>T , LRG_724t2:c.3296A>T	NP_004439.2:p.Gln1099Leu
NR_110535.1:n.3620A>T
XM_024450641.1:c.3434A>T	XP_024306409.1:p.Gln1145Leu
XM_024450642.1:c.3389A>T	XP_024306410.1:p.Gln1130Leu
XM_024450643.1:c.3344A>T	XP_024306411.1:p.Gln1115Leu
NM_001005862.3:c.3206A>T	NP_001005862.1:p.Gln1069Leu
NM_001289936.2:c.3251A>T	NP_001276865.1:p.Gln1084Leu
NM_001289937.2:c.3160-258A>T	NP_001276866.1:n.3160-258A>T
NM_001382782.1:c.3206A>T	NP_001369711.1:p.Gln1069Leu
NM_001382783.1:c.3206A>T	NP_001369712.1:p.Gln1069Leu
NM_001382784.1:c.3413A>T	NP_001369713.1:p.Gln1138Leu
NM_001382785.1:c.3398A>T	NP_001369714.1:p.Gln1133Leu
NM_001382786.1:c.3377A>T	NP_001369715.1:p.Gln1126Leu
NM_001382787.1:c.3371A>T	NP_001369716.1:p.Gln1124Leu
NM_001382788.1:c.3326A>T	NP_001369717.1:p.Gln1109Leu
NM_001382789.1:c.3317A>T	NP_001369718.1:p.Gln1106Leu
NM_001382790.1:c.3293A>T	NP_001369719.1:p.Gln1098Leu
NM_001382791.1:c.3287A>T	NP_001369720.1:p.Gln1096Leu
NM_001382792.1:c.3260A>T	NP_001369721.1:p.Gln1087Leu
NM_001382793.1:c.3254A>T	NP_001369722.1:p.Gln1085Leu
NM_001382794.1:c.3254A>T	NP_001369723.1:p.Gln1085Leu
NM_001382795.1:c.3248A>T	NP_001369724.1:p.Gln1083Leu
NM_001382796.1:c.3209A>T	NP_001369725.1:p.Gln1070Leu
NM_001382797.1:c.3197A>T	NP_001369726.1:p.Gln1066Leu
NM_001382798.1:c.3140A>T	NP_001369727.1:p.Gln1047Leu
NM_001382799.1:c.3116A>T	NP_001369728.1:p.Gln1039Leu
NM_001382800.1:c.3110A>T	NP_001369729.1:p.Gln1037Leu
NM_001382801.1:c.3092A>T	NP_001369730.1:p.Gln1031Leu
NM_001382802.1:c.3038A>T	NP_001369731.1:p.Gln1013Leu
NM_001382803.1:c.3118-258A>T	NP_001369732.1:n.3118-258A>T
NM_001382804.1:c.2468A>T	NP_001369733.1:p.Gln823Leu
NM_001382805.1:c.2345A>T	NP_001369734.1:p.Gln782Leu
NM_001382806.1:c.2258A>T	NP_001369735.1:p.Gln753Leu
NM_004448.4:c.3296A>T MANE Select	NP_004439.2:p.Gln1099Leu
NR_110535.2:n.3534A>T