Canonical Allele Identifier: CA158656

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 134081
• ClinVar RCV Id: RCV000120752
• dbSNP Id: rs587778269
• ExAC: 17:37883957 C / T
• gnomAD v2: 17-37883957-C-T
• gnomAD v4: 17-39727704-C-T
• MyVariant Identifiers: chr17:g.37883957C>T (hg19) ; chr17:g.39727704C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727704C>T , CM000679.2:g.39727704C>T	GRCh38
NC_000017.10:g.37883957C>T , CM000679.1:g.37883957C>T	GRCh37
NC_000017.9:g.35137483C>T	NCBI36
NG_007503.1:g.44565C>T , LRG_724:g.44565C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.3428C>T MANE Select	ENSP00000269571.4:p.Pro1143Leu
ENST00000269571.9:c.3428C>T	ENSP00000269571.4:p.Pro1143Leu
ENST00000406381.6:c.3338C>T	ENSP00000385185.2:p.Pro1113Leu
ENST00000445658.6:c.2600C>T	ENSP00000404047.2:p.Pro867Leu
ENST00000541774.5:c.3383C>T	ENSP00000446466.1:p.Pro1128Leu
ENST00000578373.5:c.*3218C>T	ENSP00000463427.1:n.*3218C>T
ENST00000584450.5:c.*7C>T	ENSP00000463714.1:n.*7C>T
ENST00000584601.5:c.3338C>T	ENSP00000462438.1:p.Pro1113Leu
NM_001005862.2:c.3338C>T , LRG_724t1:c.3338C>T	NP_001005862.1:p.Pro1113Leu
NM_001289936.1:c.3383C>T , LRG_724t4:c.3383C>T	NP_001276865.1:p.Pro1128Leu
NM_001289937.1:c.*7C>T	NP_001276866.1:n.*7C>T
NM_004448.3:c.3428C>T , LRG_724t2:c.3428C>T	NP_004439.2:p.Pro1143Leu
NR_110535.1:n.3752C>T
XM_024450641.1:c.3566C>T	XP_024306409.1:p.Pro1189Leu
XM_024450642.1:c.3521C>T	XP_024306410.1:p.Pro1174Leu
XM_024450643.1:c.3476C>T	XP_024306411.1:p.Pro1159Leu
NM_001005862.3:c.3338C>T	NP_001005862.1:p.Pro1113Leu
NM_001289936.2:c.3383C>T	NP_001276865.1:p.Pro1128Leu
NM_001289937.2:c.*7C>T	NP_001276866.1:n.*7C>T
NM_001382782.1:c.3338C>T	NP_001369711.1:p.Pro1113Leu
NM_001382783.1:c.3338C>T	NP_001369712.1:p.Pro1113Leu
NM_001382784.1:c.3545C>T	NP_001369713.1:p.Pro1182Leu
NM_001382785.1:c.3530C>T	NP_001369714.1:p.Pro1177Leu
NM_001382786.1:c.3509C>T	NP_001369715.1:p.Pro1170Leu
NM_001382787.1:c.3503C>T	NP_001369716.1:p.Pro1168Leu
NM_001382788.1:c.3458C>T	NP_001369717.1:p.Pro1153Leu
NM_001382789.1:c.3449C>T	NP_001369718.1:p.Pro1150Leu
NM_001382790.1:c.3425C>T	NP_001369719.1:p.Pro1142Leu
NM_001382791.1:c.3419C>T	NP_001369720.1:p.Pro1140Leu
NM_001382792.1:c.3392C>T	NP_001369721.1:p.Pro1131Leu
NM_001382793.1:c.3386C>T	NP_001369722.1:p.Pro1129Leu
NM_001382794.1:c.3386C>T	NP_001369723.1:p.Pro1129Leu
NM_001382795.1:c.3380C>T	NP_001369724.1:p.Pro1127Leu
NM_001382796.1:c.3341C>T	NP_001369725.1:p.Pro1114Leu
NM_001382797.1:c.3329C>T	NP_001369726.1:p.Pro1110Leu
NM_001382798.1:c.3272C>T	NP_001369727.1:p.Pro1091Leu
NM_001382799.1:c.3248C>T	NP_001369728.1:p.Pro1083Leu
NM_001382800.1:c.3242C>T	NP_001369729.1:p.Pro1081Leu
NM_001382801.1:c.3224C>T	NP_001369730.1:p.Pro1075Leu
NM_001382802.1:c.3170C>T	NP_001369731.1:p.Pro1057Leu
NM_001382803.1:c.*7C>T	NP_001369732.1:n.*7C>T
NM_001382804.1:c.2600C>T	NP_001369733.1:p.Pro867Leu
NM_001382805.1:c.2477C>T	NP_001369734.1:p.Pro826Leu
NM_001382806.1:c.2390C>T	NP_001369735.1:p.Pro797Leu
NM_004448.4:c.3428C>T MANE Select	NP_004439.2:p.Pro1143Leu
NR_110535.2:n.3666C>T