Canonical Allele Identifier: CA399312626

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143253741
• gnomAD v4: 17-39727485-C-A
• MyVariant Identifiers: chr17:g.37883738C>A (hg19) ; chr17:g.39727485C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3350C>A MANE Select	ENSP00000269571.4:p.Thr1117Lys
ENST00000269571.9:c.3350C>A	ENSP00000269571.4:p.Thr1117Lys
ENST00000406381.6:c.3260C>A	ENSP00000385185.2:p.Thr1087Lys
ENST00000445658.6:c.2522C>A	ENSP00000404047.2:p.Thr841Lys
ENST00000541774.5:c.3305C>A	ENSP00000446466.1:p.Thr1102Lys
ENST00000578373.5:c.*3140C>A	ENSP00000463427.1:n.*3140C>A
ENST00000584450.5:c.3160-204C>A	ENSP00000463714.1:n.3160-204C>A
ENST00000584601.5:c.3260C>A	ENSP00000462438.1:p.Thr1087Lys
NM_001005862.2:c.3260C>A , LRG_724t1:c.3260C>A	NP_001005862.1:p.Thr1087Lys
NM_001289936.1:c.3305C>A , LRG_724t4:c.3305C>A	NP_001276865.1:p.Thr1102Lys
NM_001289937.1:c.3160-204C>A	NP_001276866.1:n.3160-204C>A
NM_004448.3:c.3350C>A , LRG_724t2:c.3350C>A	NP_004439.2:p.Thr1117Lys
NR_110535.1:n.3674C>A
XM_024450641.1:c.3488C>A	XP_024306409.1:p.Thr1163Lys
XM_024450642.1:c.3443C>A	XP_024306410.1:p.Thr1148Lys
XM_024450643.1:c.3398C>A	XP_024306411.1:p.Thr1133Lys
NM_001005862.3:c.3260C>A	NP_001005862.1:p.Thr1087Lys
NM_001289936.2:c.3305C>A	NP_001276865.1:p.Thr1102Lys
NM_001289937.2:c.3160-204C>A	NP_001276866.1:n.3160-204C>A
NM_001382782.1:c.3260C>A	NP_001369711.1:p.Thr1087Lys
NM_001382783.1:c.3260C>A	NP_001369712.1:p.Thr1087Lys
NM_001382784.1:c.3467C>A	NP_001369713.1:p.Thr1156Lys
NM_001382785.1:c.3452C>A	NP_001369714.1:p.Thr1151Lys
NM_001382786.1:c.3431C>A	NP_001369715.1:p.Thr1144Lys
NM_001382787.1:c.3425C>A	NP_001369716.1:p.Thr1142Lys
NM_001382788.1:c.3380C>A	NP_001369717.1:p.Thr1127Lys
NM_001382789.1:c.3371C>A	NP_001369718.1:p.Thr1124Lys
NM_001382790.1:c.3347C>A	NP_001369719.1:p.Thr1116Lys
NM_001382791.1:c.3341C>A	NP_001369720.1:p.Thr1114Lys
NM_001382792.1:c.3314C>A	NP_001369721.1:p.Thr1105Lys
NM_001382793.1:c.3308C>A	NP_001369722.1:p.Thr1103Lys
NM_001382794.1:c.3308C>A	NP_001369723.1:p.Thr1103Lys
NM_001382795.1:c.3302C>A	NP_001369724.1:p.Thr1101Lys
NM_001382796.1:c.3263C>A	NP_001369725.1:p.Thr1088Lys
NM_001382797.1:c.3251C>A	NP_001369726.1:p.Thr1084Lys
NM_001382798.1:c.3194C>A	NP_001369727.1:p.Thr1065Lys
NM_001382799.1:c.3170C>A	NP_001369728.1:p.Thr1057Lys
NM_001382800.1:c.3164C>A	NP_001369729.1:p.Thr1055Lys
NM_001382801.1:c.3146C>A	NP_001369730.1:p.Thr1049Lys
NM_001382802.1:c.3092C>A	NP_001369731.1:p.Thr1031Lys
NM_001382803.1:c.3118-204C>A	NP_001369732.1:n.3118-204C>A
NM_001382804.1:c.2522C>A	NP_001369733.1:p.Thr841Lys
NM_001382805.1:c.2399C>A	NP_001369734.1:p.Thr800Lys
NM_001382806.1:c.2312C>A	NP_001369735.1:p.Thr771Lys
NM_004448.4:c.3350C>A MANE Select	NP_004439.2:p.Thr1117Lys
NR_110535.2:n.3588C>A