Canonical Allele Identifier: CA399310916

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143248685
• gnomAD v4: 17-39727442-A-T
• MyVariant Identifiers: chr17:g.37883695A>T (hg19) ; chr17:g.39727442A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727442A>T , CM000679.2:g.39727442A>T	GRCh38
NC_000017.10:g.37883695A>T , CM000679.1:g.37883695A>T	GRCh37
NC_000017.9:g.35137221A>T	NCBI36
NG_007503.1:g.44303A>T , LRG_724:g.44303A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3307A>T MANE Select	ENSP00000269571.4:p.Thr1103Ser
ENST00000269571.9:c.3307A>T	ENSP00000269571.4:p.Thr1103Ser
ENST00000406381.6:c.3217A>T	ENSP00000385185.2:p.Thr1073Ser
ENST00000445658.6:c.2479A>T	ENSP00000404047.2:p.Thr827Ser
ENST00000541774.5:c.3262A>T	ENSP00000446466.1:p.Thr1088Ser
ENST00000578373.5:c.*3097A>T	ENSP00000463427.1:n.*3097A>T
ENST00000584450.5:c.3160-247A>T	ENSP00000463714.1:n.3160-247A>T
ENST00000584601.5:c.3217A>T	ENSP00000462438.1:p.Thr1073Ser
NM_001005862.2:c.3217A>T , LRG_724t1:c.3217A>T	NP_001005862.1:p.Thr1073Ser
NM_001289936.1:c.3262A>T , LRG_724t4:c.3262A>T	NP_001276865.1:p.Thr1088Ser
NM_001289937.1:c.3160-247A>T	NP_001276866.1:n.3160-247A>T
NM_004448.3:c.3307A>T , LRG_724t2:c.3307A>T	NP_004439.2:p.Thr1103Ser
NR_110535.1:n.3631A>T
XM_024450641.1:c.3445A>T	XP_024306409.1:p.Thr1149Ser
XM_024450642.1:c.3400A>T	XP_024306410.1:p.Thr1134Ser
XM_024450643.1:c.3355A>T	XP_024306411.1:p.Thr1119Ser
NM_001005862.3:c.3217A>T	NP_001005862.1:p.Thr1073Ser
NM_001289936.2:c.3262A>T	NP_001276865.1:p.Thr1088Ser
NM_001289937.2:c.3160-247A>T	NP_001276866.1:n.3160-247A>T
NM_001382782.1:c.3217A>T	NP_001369711.1:p.Thr1073Ser
NM_001382783.1:c.3217A>T	NP_001369712.1:p.Thr1073Ser
NM_001382784.1:c.3424A>T	NP_001369713.1:p.Thr1142Ser
NM_001382785.1:c.3409A>T	NP_001369714.1:p.Thr1137Ser
NM_001382786.1:c.3388A>T	NP_001369715.1:p.Thr1130Ser
NM_001382787.1:c.3382A>T	NP_001369716.1:p.Thr1128Ser
NM_001382788.1:c.3337A>T	NP_001369717.1:p.Thr1113Ser
NM_001382789.1:c.3328A>T	NP_001369718.1:p.Thr1110Ser
NM_001382790.1:c.3304A>T	NP_001369719.1:p.Thr1102Ser
NM_001382791.1:c.3298A>T	NP_001369720.1:p.Thr1100Ser
NM_001382792.1:c.3271A>T	NP_001369721.1:p.Thr1091Ser
NM_001382793.1:c.3265A>T	NP_001369722.1:p.Thr1089Ser
NM_001382794.1:c.3265A>T	NP_001369723.1:p.Thr1089Ser
NM_001382795.1:c.3259A>T	NP_001369724.1:p.Thr1087Ser
NM_001382796.1:c.3220A>T	NP_001369725.1:p.Thr1074Ser
NM_001382797.1:c.3208A>T	NP_001369726.1:p.Thr1070Ser
NM_001382798.1:c.3151A>T	NP_001369727.1:p.Thr1051Ser
NM_001382799.1:c.3127A>T	NP_001369728.1:p.Thr1043Ser
NM_001382800.1:c.3121A>T	NP_001369729.1:p.Thr1041Ser
NM_001382801.1:c.3103A>T	NP_001369730.1:p.Thr1035Ser
NM_001382802.1:c.3049A>T	NP_001369731.1:p.Thr1017Ser
NM_001382803.1:c.3118-247A>T	NP_001369732.1:n.3118-247A>T
NM_001382804.1:c.2479A>T	NP_001369733.1:p.Thr827Ser
NM_001382805.1:c.2356A>T	NP_001369734.1:p.Thr786Ser
NM_001382806.1:c.2269A>T	NP_001369735.1:p.Thr757Ser
NM_004448.4:c.3307A>T MANE Select	NP_004439.2:p.Thr1103Ser
NR_110535.2:n.3545A>T