Canonical Allele Identifier: CA399313995

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143308506
• gnomAD v4: 17-39727893-A-G
• MyVariant Identifiers: chr17:g.37884146A>G (hg19) ; chr17:g.39727893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727893A>G , CM000679.2:g.39727893A>G	GRCh38
NC_000017.10:g.37884146A>G , CM000679.1:g.37884146A>G	GRCh37
NC_000017.9:g.35137672A>G	NCBI36
NG_007503.1:g.44754A>G , LRG_724:g.44754A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3617A>G MANE Select	ENSP00000269571.4:p.Gln1206Arg
ENST00000269571.9:c.3617A>G	ENSP00000269571.4:p.Gln1206Arg
ENST00000406381.6:c.3527A>G	ENSP00000385185.2:p.Gln1176Arg
ENST00000445658.6:c.2789A>G	ENSP00000404047.2:p.Gln930Arg
ENST00000541774.5:c.3572A>G	ENSP00000446466.1:p.Gln1191Arg
ENST00000578373.5:c.*3407A>G	ENSP00000463427.1:n.*3407A>G
ENST00000584450.5:c.*196A>G	ENSP00000463714.1:n.*196A>G
ENST00000584601.5:c.3527A>G	ENSP00000462438.1:p.Gln1176Arg
NM_001005862.2:c.3527A>G , LRG_724t1:c.3527A>G	NP_001005862.1:p.Gln1176Arg
NM_001289936.1:c.3572A>G , LRG_724t4:c.3572A>G	NP_001276865.1:p.Gln1191Arg
NM_001289937.1:c.*196A>G	NP_001276866.1:n.*196A>G
NM_004448.3:c.3617A>G , LRG_724t2:c.3617A>G	NP_004439.2:p.Gln1206Arg
NR_110535.1:n.3941A>G
XM_024450641.1:c.3755A>G	XP_024306409.1:p.Gln1252Arg
XM_024450642.1:c.3710A>G	XP_024306410.1:p.Gln1237Arg
XM_024450643.1:c.3665A>G	XP_024306411.1:p.Gln1222Arg
NM_001005862.3:c.3527A>G	NP_001005862.1:p.Gln1176Arg
NM_001289936.2:c.3572A>G	NP_001276865.1:p.Gln1191Arg
NM_001289937.2:c.*196A>G	NP_001276866.1:n.*196A>G
NM_001382782.1:c.3527A>G	NP_001369711.1:p.Gln1176Arg
NM_001382783.1:c.3527A>G	NP_001369712.1:p.Gln1176Arg
NM_001382784.1:c.3734A>G	NP_001369713.1:p.Gln1245Arg
NM_001382785.1:c.3719A>G	NP_001369714.1:p.Gln1240Arg
NM_001382786.1:c.3698A>G	NP_001369715.1:p.Gln1233Arg
NM_001382787.1:c.3692A>G	NP_001369716.1:p.Gln1231Arg
NM_001382788.1:c.3647A>G	NP_001369717.1:p.Gln1216Arg
NM_001382789.1:c.3638A>G	NP_001369718.1:p.Gln1213Arg
NM_001382790.1:c.3614A>G	NP_001369719.1:p.Gln1205Arg
NM_001382791.1:c.3608A>G	NP_001369720.1:p.Gln1203Arg
NM_001382792.1:c.3581A>G	NP_001369721.1:p.Gln1194Arg
NM_001382793.1:c.3575A>G	NP_001369722.1:p.Gln1192Arg
NM_001382794.1:c.3575A>G	NP_001369723.1:p.Gln1192Arg
NM_001382795.1:c.3569A>G	NP_001369724.1:p.Gln1190Arg
NM_001382796.1:c.3530A>G	NP_001369725.1:p.Gln1177Arg
NM_001382797.1:c.3518A>G	NP_001369726.1:p.Gln1173Arg
NM_001382798.1:c.3461A>G	NP_001369727.1:p.Gln1154Arg
NM_001382799.1:c.3437A>G	NP_001369728.1:p.Gln1146Arg
NM_001382800.1:c.3431A>G	NP_001369729.1:p.Gln1144Arg
NM_001382801.1:c.3413A>G	NP_001369730.1:p.Gln1138Arg
NM_001382802.1:c.3359A>G	NP_001369731.1:p.Gln1120Arg
NM_001382803.1:c.*196A>G	NP_001369732.1:n.*196A>G
NM_001382804.1:c.2789A>G	NP_001369733.1:p.Gln930Arg
NM_001382805.1:c.2666A>G	NP_001369734.1:p.Gln889Arg
NM_001382806.1:c.2579A>G	NP_001369735.1:p.Gln860Arg
NM_004448.4:c.3617A>G MANE Select	NP_004439.2:p.Gln1206Arg
NR_110535.2:n.3855A>G