Canonical Allele Identifier: CA399310648

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37883656C>A (hg19) ; chr17:g.39727403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727403C>A , CM000679.2:g.39727403C>A	GRCh38
NC_000017.10:g.37883656C>A , CM000679.1:g.37883656C>A	GRCh37
NC_000017.9:g.35137182C>A	NCBI36
NG_007503.1:g.44264C>A , LRG_724:g.44264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3268C>A MANE Select	ENSP00000269571.4:p.Leu1090Met
ENST00000269571.9:c.3268C>A	ENSP00000269571.4:p.Leu1090Met
ENST00000406381.6:c.3178C>A	ENSP00000385185.2:p.Leu1060Met
ENST00000445658.6:c.2440C>A	ENSP00000404047.2:p.Leu814Met
ENST00000541774.5:c.3223C>A	ENSP00000446466.1:p.Leu1075Met
ENST00000578373.5:c.*3058C>A	ENSP00000463427.1:n.*3058C>A
ENST00000584450.5:c.3160-286C>A	ENSP00000463714.1:n.3160-286C>A
ENST00000584601.5:c.3178C>A	ENSP00000462438.1:p.Leu1060Met
NM_001005862.2:c.3178C>A , LRG_724t1:c.3178C>A	NP_001005862.1:p.Leu1060Met
NM_001289936.1:c.3223C>A , LRG_724t4:c.3223C>A	NP_001276865.1:p.Leu1075Met
NM_001289937.1:c.3160-286C>A	NP_001276866.1:n.3160-286C>A
NM_004448.3:c.3268C>A , LRG_724t2:c.3268C>A	NP_004439.2:p.Leu1090Met
NR_110535.1:n.3592C>A
XM_024450641.1:c.3406C>A	XP_024306409.1:p.Leu1136Met
XM_024450642.1:c.3361C>A	XP_024306410.1:p.Leu1121Met
XM_024450643.1:c.3316C>A	XP_024306411.1:p.Leu1106Met
NM_001005862.3:c.3178C>A	NP_001005862.1:p.Leu1060Met
NM_001289936.2:c.3223C>A	NP_001276865.1:p.Leu1075Met
NM_001289937.2:c.3160-286C>A	NP_001276866.1:n.3160-286C>A
NM_001382782.1:c.3178C>A	NP_001369711.1:p.Leu1060Met
NM_001382783.1:c.3178C>A	NP_001369712.1:p.Leu1060Met
NM_001382784.1:c.3385C>A	NP_001369713.1:p.Leu1129Met
NM_001382785.1:c.3370C>A	NP_001369714.1:p.Leu1124Met
NM_001382786.1:c.3349C>A	NP_001369715.1:p.Leu1117Met
NM_001382787.1:c.3343C>A	NP_001369716.1:p.Leu1115Met
NM_001382788.1:c.3298C>A	NP_001369717.1:p.Leu1100Met
NM_001382789.1:c.3289C>A	NP_001369718.1:p.Leu1097Met
NM_001382790.1:c.3265C>A	NP_001369719.1:p.Leu1089Met
NM_001382791.1:c.3259C>A	NP_001369720.1:p.Leu1087Met
NM_001382792.1:c.3232C>A	NP_001369721.1:p.Leu1078Met
NM_001382793.1:c.3226C>A	NP_001369722.1:p.Leu1076Met
NM_001382794.1:c.3226C>A	NP_001369723.1:p.Leu1076Met
NM_001382795.1:c.3220C>A	NP_001369724.1:p.Leu1074Met
NM_001382796.1:c.3181C>A	NP_001369725.1:p.Leu1061Met
NM_001382797.1:c.3169C>A	NP_001369726.1:p.Leu1057Met
NM_001382798.1:c.3112C>A	NP_001369727.1:p.Leu1038Met
NM_001382799.1:c.3088C>A	NP_001369728.1:p.Leu1030Met
NM_001382800.1:c.3082C>A	NP_001369729.1:p.Leu1028Met
NM_001382801.1:c.3064C>A	NP_001369730.1:p.Leu1022Met
NM_001382802.1:c.3010C>A	NP_001369731.1:p.Leu1004Met
NM_001382803.1:c.3118-286C>A	NP_001369732.1:n.3118-286C>A
NM_001382804.1:c.2440C>A	NP_001369733.1:p.Leu814Met
NM_001382805.1:c.2317C>A	NP_001369734.1:p.Leu773Met
NM_001382806.1:c.2230C>A	NP_001369735.1:p.Leu744Met
NM_004448.4:c.3268C>A MANE Select	NP_004439.2:p.Leu1090Met
NR_110535.2:n.3506C>A