Canonical Allele Identifier: CA399313822

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37884119T>G (hg19) ; chr17:g.39727866T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727866T>G , CM000679.2:g.39727866T>G	GRCh38
NC_000017.10:g.37884119T>G , CM000679.1:g.37884119T>G	GRCh37
NC_000017.9:g.35137645T>G	NCBI36
NG_007503.1:g.44727T>G , LRG_724:g.44727T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3590T>G MANE Select	ENSP00000269571.4:p.Leu1197Trp
ENST00000269571.9:c.3590T>G	ENSP00000269571.4:p.Leu1197Trp
ENST00000406381.6:c.3500T>G	ENSP00000385185.2:p.Leu1167Trp
ENST00000445658.6:c.2762T>G	ENSP00000404047.2:p.Leu921Trp
ENST00000541774.5:c.3545T>G	ENSP00000446466.1:p.Leu1182Trp
ENST00000578373.5:c.*3380T>G	ENSP00000463427.1:n.*3380T>G
ENST00000584450.5:c.*169T>G	ENSP00000463714.1:n.*169T>G
ENST00000584601.5:c.3500T>G	ENSP00000462438.1:p.Leu1167Trp
NM_001005862.2:c.3500T>G , LRG_724t1:c.3500T>G	NP_001005862.1:p.Leu1167Trp
NM_001289936.1:c.3545T>G , LRG_724t4:c.3545T>G	NP_001276865.1:p.Leu1182Trp
NM_001289937.1:c.*169T>G	NP_001276866.1:n.*169T>G
NM_004448.3:c.3590T>G , LRG_724t2:c.3590T>G	NP_004439.2:p.Leu1197Trp
NR_110535.1:n.3914T>G
XM_024450641.1:c.3728T>G	XP_024306409.1:p.Leu1243Trp
XM_024450642.1:c.3683T>G	XP_024306410.1:p.Leu1228Trp
XM_024450643.1:c.3638T>G	XP_024306411.1:p.Leu1213Trp
NM_001005862.3:c.3500T>G	NP_001005862.1:p.Leu1167Trp
NM_001289936.2:c.3545T>G	NP_001276865.1:p.Leu1182Trp
NM_001289937.2:c.*169T>G	NP_001276866.1:n.*169T>G
NM_001382782.1:c.3500T>G	NP_001369711.1:p.Leu1167Trp
NM_001382783.1:c.3500T>G	NP_001369712.1:p.Leu1167Trp
NM_001382784.1:c.3707T>G	NP_001369713.1:p.Leu1236Trp
NM_001382785.1:c.3692T>G	NP_001369714.1:p.Leu1231Trp
NM_001382786.1:c.3671T>G	NP_001369715.1:p.Leu1224Trp
NM_001382787.1:c.3665T>G	NP_001369716.1:p.Leu1222Trp
NM_001382788.1:c.3620T>G	NP_001369717.1:p.Leu1207Trp
NM_001382789.1:c.3611T>G	NP_001369718.1:p.Leu1204Trp
NM_001382790.1:c.3587T>G	NP_001369719.1:p.Leu1196Trp
NM_001382791.1:c.3581T>G	NP_001369720.1:p.Leu1194Trp
NM_001382792.1:c.3554T>G	NP_001369721.1:p.Leu1185Trp
NM_001382793.1:c.3548T>G	NP_001369722.1:p.Leu1183Trp
NM_001382794.1:c.3548T>G	NP_001369723.1:p.Leu1183Trp
NM_001382795.1:c.3542T>G	NP_001369724.1:p.Leu1181Trp
NM_001382796.1:c.3503T>G	NP_001369725.1:p.Leu1168Trp
NM_001382797.1:c.3491T>G	NP_001369726.1:p.Leu1164Trp
NM_001382798.1:c.3434T>G	NP_001369727.1:p.Leu1145Trp
NM_001382799.1:c.3410T>G	NP_001369728.1:p.Leu1137Trp
NM_001382800.1:c.3404T>G	NP_001369729.1:p.Leu1135Trp
NM_001382801.1:c.3386T>G	NP_001369730.1:p.Leu1129Trp
NM_001382802.1:c.3332T>G	NP_001369731.1:p.Leu1111Trp
NM_001382803.1:c.*169T>G	NP_001369732.1:n.*169T>G
NM_001382804.1:c.2762T>G	NP_001369733.1:p.Leu921Trp
NM_001382805.1:c.2639T>G	NP_001369734.1:p.Leu880Trp
NM_001382806.1:c.2552T>G	NP_001369735.1:p.Leu851Trp
NM_004448.4:c.3590T>G MANE Select	NP_004439.2:p.Leu1197Trp
NR_110535.2:n.3828T>G