Canonical Allele Identifier: CA399312651

Gene: ERBB2

Linked Data

• dbSNP Id: rs1296659440
• gnomAD v4: 17-39727491-C-T
• MyVariant Identifiers: chr17:g.37883744C>T (hg19) ; chr17:g.39727491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727491C>T , CM000679.2:g.39727491C>T	GRCh38
NC_000017.10:g.37883744C>T , CM000679.1:g.37883744C>T	GRCh37
NC_000017.9:g.35137270C>T	NCBI36
NG_007503.1:g.44352C>T , LRG_724:g.44352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3356C>T MANE Select	ENSP00000269571.4:p.Pro1119Leu
ENST00000269571.9:c.3356C>T	ENSP00000269571.4:p.Pro1119Leu
ENST00000406381.6:c.3266C>T	ENSP00000385185.2:p.Pro1089Leu
ENST00000445658.6:c.2528C>T	ENSP00000404047.2:p.Pro843Leu
ENST00000541774.5:c.3311C>T	ENSP00000446466.1:p.Pro1104Leu
ENST00000578373.5:c.*3146C>T	ENSP00000463427.1:n.*3146C>T
ENST00000584450.5:c.3160-198C>T	ENSP00000463714.1:n.3160-198C>T
ENST00000584601.5:c.3266C>T	ENSP00000462438.1:p.Pro1089Leu
NM_001005862.2:c.3266C>T , LRG_724t1:c.3266C>T	NP_001005862.1:p.Pro1089Leu
NM_001289936.1:c.3311C>T , LRG_724t4:c.3311C>T	NP_001276865.1:p.Pro1104Leu
NM_001289937.1:c.3160-198C>T	NP_001276866.1:n.3160-198C>T
NM_004448.3:c.3356C>T , LRG_724t2:c.3356C>T	NP_004439.2:p.Pro1119Leu
NR_110535.1:n.3680C>T
XM_024450641.1:c.3494C>T	XP_024306409.1:p.Pro1165Leu
XM_024450642.1:c.3449C>T	XP_024306410.1:p.Pro1150Leu
XM_024450643.1:c.3404C>T	XP_024306411.1:p.Pro1135Leu
NM_001005862.3:c.3266C>T	NP_001005862.1:p.Pro1089Leu
NM_001289936.2:c.3311C>T	NP_001276865.1:p.Pro1104Leu
NM_001289937.2:c.3160-198C>T	NP_001276866.1:n.3160-198C>T
NM_001382782.1:c.3266C>T	NP_001369711.1:p.Pro1089Leu
NM_001382783.1:c.3266C>T	NP_001369712.1:p.Pro1089Leu
NM_001382784.1:c.3473C>T	NP_001369713.1:p.Pro1158Leu
NM_001382785.1:c.3458C>T	NP_001369714.1:p.Pro1153Leu
NM_001382786.1:c.3437C>T	NP_001369715.1:p.Pro1146Leu
NM_001382787.1:c.3431C>T	NP_001369716.1:p.Pro1144Leu
NM_001382788.1:c.3386C>T	NP_001369717.1:p.Pro1129Leu
NM_001382789.1:c.3377C>T	NP_001369718.1:p.Pro1126Leu
NM_001382790.1:c.3353C>T	NP_001369719.1:p.Pro1118Leu
NM_001382791.1:c.3347C>T	NP_001369720.1:p.Pro1116Leu
NM_001382792.1:c.3320C>T	NP_001369721.1:p.Pro1107Leu
NM_001382793.1:c.3314C>T	NP_001369722.1:p.Pro1105Leu
NM_001382794.1:c.3314C>T	NP_001369723.1:p.Pro1105Leu
NM_001382795.1:c.3308C>T	NP_001369724.1:p.Pro1103Leu
NM_001382796.1:c.3269C>T	NP_001369725.1:p.Pro1090Leu
NM_001382797.1:c.3257C>T	NP_001369726.1:p.Pro1086Leu
NM_001382798.1:c.3200C>T	NP_001369727.1:p.Pro1067Leu
NM_001382799.1:c.3176C>T	NP_001369728.1:p.Pro1059Leu
NM_001382800.1:c.3170C>T	NP_001369729.1:p.Pro1057Leu
NM_001382801.1:c.3152C>T	NP_001369730.1:p.Pro1051Leu
NM_001382802.1:c.3098C>T	NP_001369731.1:p.Pro1033Leu
NM_001382803.1:c.3118-198C>T	NP_001369732.1:n.3118-198C>T
NM_001382804.1:c.2528C>T	NP_001369733.1:p.Pro843Leu
NM_001382805.1:c.2405C>T	NP_001369734.1:p.Pro802Leu
NM_001382806.1:c.2318C>T	NP_001369735.1:p.Pro773Leu
NM_004448.4:c.3356C>T MANE Select	NP_004439.2:p.Pro1119Leu
NR_110535.2:n.3594C>T