Canonical Allele Identifier: CA399313320

Gene: ERBB2

Linked Data

• dbSNP Id: rs1285998921
• gnomAD v3: 17-39727800-C-T
• gnomAD v4: 17-39727800-C-T
• MyVariant Identifiers: chr17:g.37884053C>T (hg19) ; chr17:g.39727800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727800C>T , CM000679.2:g.39727800C>T	GRCh38
NC_000017.10:g.37884053C>T , CM000679.1:g.37884053C>T	GRCh37
NC_000017.9:g.35137579C>T	NCBI36
NG_007503.1:g.44661C>T , LRG_724:g.44661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3524C>T MANE Select	ENSP00000269571.4:p.Pro1175Leu
ENST00000269571.9:c.3524C>T	ENSP00000269571.4:p.Pro1175Leu
ENST00000406381.6:c.3434C>T	ENSP00000385185.2:p.Pro1145Leu
ENST00000445658.6:c.2696C>T	ENSP00000404047.2:p.Pro899Leu
ENST00000541774.5:c.3479C>T	ENSP00000446466.1:p.Pro1160Leu
ENST00000578373.5:c.*3314C>T	ENSP00000463427.1:n.*3314C>T
ENST00000584450.5:c.*103C>T	ENSP00000463714.1:n.*103C>T
ENST00000584601.5:c.3434C>T	ENSP00000462438.1:p.Pro1145Leu
NM_001005862.2:c.3434C>T , LRG_724t1:c.3434C>T	NP_001005862.1:p.Pro1145Leu
NM_001289936.1:c.3479C>T , LRG_724t4:c.3479C>T	NP_001276865.1:p.Pro1160Leu
NM_001289937.1:c.*103C>T	NP_001276866.1:n.*103C>T
NM_004448.3:c.3524C>T , LRG_724t2:c.3524C>T	NP_004439.2:p.Pro1175Leu
NR_110535.1:n.3848C>T
XM_024450641.1:c.3662C>T	XP_024306409.1:p.Pro1221Leu
XM_024450642.1:c.3617C>T	XP_024306410.1:p.Pro1206Leu
XM_024450643.1:c.3572C>T	XP_024306411.1:p.Pro1191Leu
NM_001005862.3:c.3434C>T	NP_001005862.1:p.Pro1145Leu
NM_001289936.2:c.3479C>T	NP_001276865.1:p.Pro1160Leu
NM_001289937.2:c.*103C>T	NP_001276866.1:n.*103C>T
NM_001382782.1:c.3434C>T	NP_001369711.1:p.Pro1145Leu
NM_001382783.1:c.3434C>T	NP_001369712.1:p.Pro1145Leu
NM_001382784.1:c.3641C>T	NP_001369713.1:p.Pro1214Leu
NM_001382785.1:c.3626C>T	NP_001369714.1:p.Pro1209Leu
NM_001382786.1:c.3605C>T	NP_001369715.1:p.Pro1202Leu
NM_001382787.1:c.3599C>T	NP_001369716.1:p.Pro1200Leu
NM_001382788.1:c.3554C>T	NP_001369717.1:p.Pro1185Leu
NM_001382789.1:c.3545C>T	NP_001369718.1:p.Pro1182Leu
NM_001382790.1:c.3521C>T	NP_001369719.1:p.Pro1174Leu
NM_001382791.1:c.3515C>T	NP_001369720.1:p.Pro1172Leu
NM_001382792.1:c.3488C>T	NP_001369721.1:p.Pro1163Leu
NM_001382793.1:c.3482C>T	NP_001369722.1:p.Pro1161Leu
NM_001382794.1:c.3482C>T	NP_001369723.1:p.Pro1161Leu
NM_001382795.1:c.3476C>T	NP_001369724.1:p.Pro1159Leu
NM_001382796.1:c.3437C>T	NP_001369725.1:p.Pro1146Leu
NM_001382797.1:c.3425C>T	NP_001369726.1:p.Pro1142Leu
NM_001382798.1:c.3368C>T	NP_001369727.1:p.Pro1123Leu
NM_001382799.1:c.3344C>T	NP_001369728.1:p.Pro1115Leu
NM_001382800.1:c.3338C>T	NP_001369729.1:p.Pro1113Leu
NM_001382801.1:c.3320C>T	NP_001369730.1:p.Pro1107Leu
NM_001382802.1:c.3266C>T	NP_001369731.1:p.Pro1089Leu
NM_001382803.1:c.*103C>T	NP_001369732.1:n.*103C>T
NM_001382804.1:c.2696C>T	NP_001369733.1:p.Pro899Leu
NM_001382805.1:c.2573C>T	NP_001369734.1:p.Pro858Leu
NM_001382806.1:c.2486C>T	NP_001369735.1:p.Pro829Leu
NM_004448.4:c.3524C>T MANE Select	NP_004439.2:p.Pro1175Leu
NR_110535.2:n.3762C>T