Canonical Allele Identifier: CA399312629

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727485-C-T
• MyVariant Identifiers: chr17:g.37883738C>T (hg19) ; chr17:g.39727485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727485C>T , CM000679.2:g.39727485C>T	GRCh38
NC_000017.10:g.37883738C>T , CM000679.1:g.37883738C>T	GRCh37
NC_000017.9:g.35137264C>T	NCBI36
NG_007503.1:g.44346C>T , LRG_724:g.44346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3350C>T MANE Select	ENSP00000269571.4:p.Thr1117Ile
ENST00000269571.9:c.3350C>T	ENSP00000269571.4:p.Thr1117Ile
ENST00000406381.6:c.3260C>T	ENSP00000385185.2:p.Thr1087Ile
ENST00000445658.6:c.2522C>T	ENSP00000404047.2:p.Thr841Ile
ENST00000541774.5:c.3305C>T	ENSP00000446466.1:p.Thr1102Ile
ENST00000578373.5:c.*3140C>T	ENSP00000463427.1:n.*3140C>T
ENST00000584450.5:c.3160-204C>T	ENSP00000463714.1:n.3160-204C>T
ENST00000584601.5:c.3260C>T	ENSP00000462438.1:p.Thr1087Ile
NM_001005862.2:c.3260C>T , LRG_724t1:c.3260C>T	NP_001005862.1:p.Thr1087Ile
NM_001289936.1:c.3305C>T , LRG_724t4:c.3305C>T	NP_001276865.1:p.Thr1102Ile
NM_001289937.1:c.3160-204C>T	NP_001276866.1:n.3160-204C>T
NM_004448.3:c.3350C>T , LRG_724t2:c.3350C>T	NP_004439.2:p.Thr1117Ile
NR_110535.1:n.3674C>T
XM_024450641.1:c.3488C>T	XP_024306409.1:p.Thr1163Ile
XM_024450642.1:c.3443C>T	XP_024306410.1:p.Thr1148Ile
XM_024450643.1:c.3398C>T	XP_024306411.1:p.Thr1133Ile
NM_001005862.3:c.3260C>T	NP_001005862.1:p.Thr1087Ile
NM_001289936.2:c.3305C>T	NP_001276865.1:p.Thr1102Ile
NM_001289937.2:c.3160-204C>T	NP_001276866.1:n.3160-204C>T
NM_001382782.1:c.3260C>T	NP_001369711.1:p.Thr1087Ile
NM_001382783.1:c.3260C>T	NP_001369712.1:p.Thr1087Ile
NM_001382784.1:c.3467C>T	NP_001369713.1:p.Thr1156Ile
NM_001382785.1:c.3452C>T	NP_001369714.1:p.Thr1151Ile
NM_001382786.1:c.3431C>T	NP_001369715.1:p.Thr1144Ile
NM_001382787.1:c.3425C>T	NP_001369716.1:p.Thr1142Ile
NM_001382788.1:c.3380C>T	NP_001369717.1:p.Thr1127Ile
NM_001382789.1:c.3371C>T	NP_001369718.1:p.Thr1124Ile
NM_001382790.1:c.3347C>T	NP_001369719.1:p.Thr1116Ile
NM_001382791.1:c.3341C>T	NP_001369720.1:p.Thr1114Ile
NM_001382792.1:c.3314C>T	NP_001369721.1:p.Thr1105Ile
NM_001382793.1:c.3308C>T	NP_001369722.1:p.Thr1103Ile
NM_001382794.1:c.3308C>T	NP_001369723.1:p.Thr1103Ile
NM_001382795.1:c.3302C>T	NP_001369724.1:p.Thr1101Ile
NM_001382796.1:c.3263C>T	NP_001369725.1:p.Thr1088Ile
NM_001382797.1:c.3251C>T	NP_001369726.1:p.Thr1084Ile
NM_001382798.1:c.3194C>T	NP_001369727.1:p.Thr1065Ile
NM_001382799.1:c.3170C>T	NP_001369728.1:p.Thr1057Ile
NM_001382800.1:c.3164C>T	NP_001369729.1:p.Thr1055Ile
NM_001382801.1:c.3146C>T	NP_001369730.1:p.Thr1049Ile
NM_001382802.1:c.3092C>T	NP_001369731.1:p.Thr1031Ile
NM_001382803.1:c.3118-204C>T	NP_001369732.1:n.3118-204C>T
NM_001382804.1:c.2522C>T	NP_001369733.1:p.Thr841Ile
NM_001382805.1:c.2399C>T	NP_001369734.1:p.Thr800Ile
NM_001382806.1:c.2312C>T	NP_001369735.1:p.Thr771Ile
NM_004448.4:c.3350C>T MANE Select	NP_004439.2:p.Thr1117Ile
NR_110535.2:n.3588C>T