Canonical Allele Identifier: CA399313997

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143308506
• MyVariant Identifiers: chr17:g.37884146A>T (hg19) ; chr17:g.39727893A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3617A>T MANE Select	ENSP00000269571.4:p.Gln1206Leu
ENST00000269571.9:c.3617A>T	ENSP00000269571.4:p.Gln1206Leu
ENST00000406381.6:c.3527A>T	ENSP00000385185.2:p.Gln1176Leu
ENST00000445658.6:c.2789A>T	ENSP00000404047.2:p.Gln930Leu
ENST00000541774.5:c.3572A>T	ENSP00000446466.1:p.Gln1191Leu
ENST00000578373.5:c.*3407A>T	ENSP00000463427.1:n.*3407A>T
ENST00000584450.5:c.*196A>T	ENSP00000463714.1:n.*196A>T
ENST00000584601.5:c.3527A>T	ENSP00000462438.1:p.Gln1176Leu
NM_001005862.2:c.3527A>T , LRG_724t1:c.3527A>T	NP_001005862.1:p.Gln1176Leu
NM_001289936.1:c.3572A>T , LRG_724t4:c.3572A>T	NP_001276865.1:p.Gln1191Leu
NM_001289937.1:c.*196A>T	NP_001276866.1:n.*196A>T
NM_004448.3:c.3617A>T , LRG_724t2:c.3617A>T	NP_004439.2:p.Gln1206Leu
NR_110535.1:n.3941A>T
XM_024450641.1:c.3755A>T	XP_024306409.1:p.Gln1252Leu
XM_024450642.1:c.3710A>T	XP_024306410.1:p.Gln1237Leu
XM_024450643.1:c.3665A>T	XP_024306411.1:p.Gln1222Leu
NM_001005862.3:c.3527A>T	NP_001005862.1:p.Gln1176Leu
NM_001289936.2:c.3572A>T	NP_001276865.1:p.Gln1191Leu
NM_001289937.2:c.*196A>T	NP_001276866.1:n.*196A>T
NM_001382782.1:c.3527A>T	NP_001369711.1:p.Gln1176Leu
NM_001382783.1:c.3527A>T	NP_001369712.1:p.Gln1176Leu
NM_001382784.1:c.3734A>T	NP_001369713.1:p.Gln1245Leu
NM_001382785.1:c.3719A>T	NP_001369714.1:p.Gln1240Leu
NM_001382786.1:c.3698A>T	NP_001369715.1:p.Gln1233Leu
NM_001382787.1:c.3692A>T	NP_001369716.1:p.Gln1231Leu
NM_001382788.1:c.3647A>T	NP_001369717.1:p.Gln1216Leu
NM_001382789.1:c.3638A>T	NP_001369718.1:p.Gln1213Leu
NM_001382790.1:c.3614A>T	NP_001369719.1:p.Gln1205Leu
NM_001382791.1:c.3608A>T	NP_001369720.1:p.Gln1203Leu
NM_001382792.1:c.3581A>T	NP_001369721.1:p.Gln1194Leu
NM_001382793.1:c.3575A>T	NP_001369722.1:p.Gln1192Leu
NM_001382794.1:c.3575A>T	NP_001369723.1:p.Gln1192Leu
NM_001382795.1:c.3569A>T	NP_001369724.1:p.Gln1190Leu
NM_001382796.1:c.3530A>T	NP_001369725.1:p.Gln1177Leu
NM_001382797.1:c.3518A>T	NP_001369726.1:p.Gln1173Leu
NM_001382798.1:c.3461A>T	NP_001369727.1:p.Gln1154Leu
NM_001382799.1:c.3437A>T	NP_001369728.1:p.Gln1146Leu
NM_001382800.1:c.3431A>T	NP_001369729.1:p.Gln1144Leu
NM_001382801.1:c.3413A>T	NP_001369730.1:p.Gln1138Leu
NM_001382802.1:c.3359A>T	NP_001369731.1:p.Gln1120Leu
NM_001382803.1:c.*196A>T	NP_001369732.1:n.*196A>T
NM_001382804.1:c.2789A>T	NP_001369733.1:p.Gln930Leu
NM_001382805.1:c.2666A>T	NP_001369734.1:p.Gln889Leu
NM_001382806.1:c.2579A>T	NP_001369735.1:p.Gln860Leu
NM_004448.4:c.3617A>T MANE Select	NP_004439.2:p.Gln1206Leu
NR_110535.2:n.3855A>T