Canonical Allele Identifier: CA399312853

Gene: ERBB2

Linked Data

• dbSNP Id: rs587778269
• gnomAD v4: 17-39727704-C-A
• MyVariant Identifiers: chr17:g.37883957C>A (hg19) ; chr17:g.39727704C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3428C>A MANE Select	ENSP00000269571.4:p.Pro1143Gln
ENST00000269571.9:c.3428C>A	ENSP00000269571.4:p.Pro1143Gln
ENST00000406381.6:c.3338C>A	ENSP00000385185.2:p.Pro1113Gln
ENST00000445658.6:c.2600C>A	ENSP00000404047.2:p.Pro867Gln
ENST00000541774.5:c.3383C>A	ENSP00000446466.1:p.Pro1128Gln
ENST00000578373.5:c.*3218C>A	ENSP00000463427.1:n.*3218C>A
ENST00000584450.5:c.*7C>A	ENSP00000463714.1:n.*7C>A
ENST00000584601.5:c.3338C>A	ENSP00000462438.1:p.Pro1113Gln
NM_001005862.2:c.3338C>A , LRG_724t1:c.3338C>A	NP_001005862.1:p.Pro1113Gln
NM_001289936.1:c.3383C>A , LRG_724t4:c.3383C>A	NP_001276865.1:p.Pro1128Gln
NM_001289937.1:c.*7C>A	NP_001276866.1:n.*7C>A
NM_004448.3:c.3428C>A , LRG_724t2:c.3428C>A	NP_004439.2:p.Pro1143Gln
NR_110535.1:n.3752C>A
XM_024450641.1:c.3566C>A	XP_024306409.1:p.Pro1189Gln
XM_024450642.1:c.3521C>A	XP_024306410.1:p.Pro1174Gln
XM_024450643.1:c.3476C>A	XP_024306411.1:p.Pro1159Gln
NM_001005862.3:c.3338C>A	NP_001005862.1:p.Pro1113Gln
NM_001289936.2:c.3383C>A	NP_001276865.1:p.Pro1128Gln
NM_001289937.2:c.*7C>A	NP_001276866.1:n.*7C>A
NM_001382782.1:c.3338C>A	NP_001369711.1:p.Pro1113Gln
NM_001382783.1:c.3338C>A	NP_001369712.1:p.Pro1113Gln
NM_001382784.1:c.3545C>A	NP_001369713.1:p.Pro1182Gln
NM_001382785.1:c.3530C>A	NP_001369714.1:p.Pro1177Gln
NM_001382786.1:c.3509C>A	NP_001369715.1:p.Pro1170Gln
NM_001382787.1:c.3503C>A	NP_001369716.1:p.Pro1168Gln
NM_001382788.1:c.3458C>A	NP_001369717.1:p.Pro1153Gln
NM_001382789.1:c.3449C>A	NP_001369718.1:p.Pro1150Gln
NM_001382790.1:c.3425C>A	NP_001369719.1:p.Pro1142Gln
NM_001382791.1:c.3419C>A	NP_001369720.1:p.Pro1140Gln
NM_001382792.1:c.3392C>A	NP_001369721.1:p.Pro1131Gln
NM_001382793.1:c.3386C>A	NP_001369722.1:p.Pro1129Gln
NM_001382794.1:c.3386C>A	NP_001369723.1:p.Pro1129Gln
NM_001382795.1:c.3380C>A	NP_001369724.1:p.Pro1127Gln
NM_001382796.1:c.3341C>A	NP_001369725.1:p.Pro1114Gln
NM_001382797.1:c.3329C>A	NP_001369726.1:p.Pro1110Gln
NM_001382798.1:c.3272C>A	NP_001369727.1:p.Pro1091Gln
NM_001382799.1:c.3248C>A	NP_001369728.1:p.Pro1083Gln
NM_001382800.1:c.3242C>A	NP_001369729.1:p.Pro1081Gln
NM_001382801.1:c.3224C>A	NP_001369730.1:p.Pro1075Gln
NM_001382802.1:c.3170C>A	NP_001369731.1:p.Pro1057Gln
NM_001382803.1:c.*7C>A	NP_001369732.1:n.*7C>A
NM_001382804.1:c.2600C>A	NP_001369733.1:p.Pro867Gln
NM_001382805.1:c.2477C>A	NP_001369734.1:p.Pro826Gln
NM_001382806.1:c.2390C>A	NP_001369735.1:p.Pro797Gln
NM_004448.4:c.3428C>A MANE Select	NP_004439.2:p.Pro1143Gln
NR_110535.2:n.3666C>A