Canonical Allele Identifier: CA399310561

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37883644T>C (hg19) ; chr17:g.39727391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727391T>C , CM000679.2:g.39727391T>C	GRCh38
NC_000017.10:g.37883644T>C , CM000679.1:g.37883644T>C	GRCh37
NC_000017.9:g.35137170T>C	NCBI36
NG_007503.1:g.44252T>C , LRG_724:g.44252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3256T>C MANE Select	ENSP00000269571.4:p.Phe1086Leu
ENST00000269571.9:c.3256T>C	ENSP00000269571.4:p.Phe1086Leu
ENST00000406381.6:c.3166T>C	ENSP00000385185.2:p.Phe1056Leu
ENST00000445658.6:c.2428T>C	ENSP00000404047.2:p.Phe810Leu
ENST00000541774.5:c.3211T>C	ENSP00000446466.1:p.Phe1071Leu
ENST00000578373.5:c.*3046T>C	ENSP00000463427.1:n.*3046T>C
ENST00000584450.5:c.3160-298T>C	ENSP00000463714.1:n.3160-298T>C
ENST00000584601.5:c.3166T>C	ENSP00000462438.1:p.Phe1056Leu
NM_001005862.2:c.3166T>C , LRG_724t1:c.3166T>C	NP_001005862.1:p.Phe1056Leu
NM_001289936.1:c.3211T>C , LRG_724t4:c.3211T>C	NP_001276865.1:p.Phe1071Leu
NM_001289937.1:c.3160-298T>C	NP_001276866.1:n.3160-298T>C
NM_004448.3:c.3256T>C , LRG_724t2:c.3256T>C	NP_004439.2:p.Phe1086Leu
NR_110535.1:n.3580T>C
XM_024450641.1:c.3394T>C	XP_024306409.1:p.Phe1132Leu
XM_024450642.1:c.3349T>C	XP_024306410.1:p.Phe1117Leu
XM_024450643.1:c.3304T>C	XP_024306411.1:p.Phe1102Leu
NM_001005862.3:c.3166T>C	NP_001005862.1:p.Phe1056Leu
NM_001289936.2:c.3211T>C	NP_001276865.1:p.Phe1071Leu
NM_001289937.2:c.3160-298T>C	NP_001276866.1:n.3160-298T>C
NM_001382782.1:c.3166T>C	NP_001369711.1:p.Phe1056Leu
NM_001382783.1:c.3166T>C	NP_001369712.1:p.Phe1056Leu
NM_001382784.1:c.3373T>C	NP_001369713.1:p.Phe1125Leu
NM_001382785.1:c.3358T>C	NP_001369714.1:p.Phe1120Leu
NM_001382786.1:c.3337T>C	NP_001369715.1:p.Phe1113Leu
NM_001382787.1:c.3331T>C	NP_001369716.1:p.Phe1111Leu
NM_001382788.1:c.3286T>C	NP_001369717.1:p.Phe1096Leu
NM_001382789.1:c.3277T>C	NP_001369718.1:p.Phe1093Leu
NM_001382790.1:c.3253T>C	NP_001369719.1:p.Phe1085Leu
NM_001382791.1:c.3247T>C	NP_001369720.1:p.Phe1083Leu
NM_001382792.1:c.3220T>C	NP_001369721.1:p.Phe1074Leu
NM_001382793.1:c.3214T>C	NP_001369722.1:p.Phe1072Leu
NM_001382794.1:c.3214T>C	NP_001369723.1:p.Phe1072Leu
NM_001382795.1:c.3208T>C	NP_001369724.1:p.Phe1070Leu
NM_001382796.1:c.3169T>C	NP_001369725.1:p.Phe1057Leu
NM_001382797.1:c.3157T>C	NP_001369726.1:p.Phe1053Leu
NM_001382798.1:c.3100T>C	NP_001369727.1:p.Phe1034Leu
NM_001382799.1:c.3076T>C	NP_001369728.1:p.Phe1026Leu
NM_001382800.1:c.3070T>C	NP_001369729.1:p.Phe1024Leu
NM_001382801.1:c.3052T>C	NP_001369730.1:p.Phe1018Leu
NM_001382802.1:c.2998T>C	NP_001369731.1:p.Phe1000Leu
NM_001382803.1:c.3118-298T>C	NP_001369732.1:n.3118-298T>C
NM_001382804.1:c.2428T>C	NP_001369733.1:p.Phe810Leu
NM_001382805.1:c.2305T>C	NP_001369734.1:p.Phe769Leu
NM_001382806.1:c.2218T>C	NP_001369735.1:p.Phe740Leu
NM_004448.4:c.3256T>C MANE Select	NP_004439.2:p.Phe1086Leu
NR_110535.2:n.3494T>C