Canonical Allele Identifier: CA499671619

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143238934
• MyVariant Identifiers: chr17:g.37883613G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727360G>T , CM000679.2:g.39727360G>T	GRCh38
NC_000017.10:g.37883613G>T , CM000679.1:g.37883613G>T	GRCh37
NC_000017.9:g.35137139G>T	NCBI36
NG_007503.1:g.44221G>T , LRG_724:g.44221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3225G>T MANE Select	ENSP00000269571.4:p.Leu1075=
ENST00000269571.9:c.3225G>T	ENSP00000269571.4:p.Leu1075=
ENST00000406381.6:c.3135G>T	ENSP00000385185.2:p.Leu1045=
ENST00000445658.6:c.2397G>T	ENSP00000404047.2:p.Leu799=
ENST00000541774.5:c.3180G>T	ENSP00000446466.1:p.Leu1060=
ENST00000578373.5:c.*3015G>T	ENSP00000463427.1:n.*3015G>T
ENST00000584450.5:c.3160-329G>T	ENSP00000463714.1:n.3160-329G>T
ENST00000584601.5:c.3135G>T	ENSP00000462438.1:p.Leu1045=
NM_001005862.2:c.3135G>T , LRG_724t1:c.3135G>T	NP_001005862.1:p.Leu1045=
NM_001289936.1:c.3180G>T , LRG_724t4:c.3180G>T	NP_001276865.1:p.Leu1060=
NM_001289937.1:c.3160-329G>T	NP_001276866.1:n.3160-329G>T
NM_004448.3:c.3225G>T , LRG_724t2:c.3225G>T	NP_004439.2:p.Leu1075=
NR_110535.1:n.3549G>T
XM_024450641.1:c.3363G>T	XP_024306409.1:p.Leu1121=
XM_024450642.1:c.3318G>T	XP_024306410.1:p.Leu1106=
XM_024450643.1:c.3273G>T	XP_024306411.1:p.Leu1091=
NM_001005862.3:c.3135G>T	NP_001005862.1:p.Leu1045=
NM_001289936.2:c.3180G>T	NP_001276865.1:p.Leu1060=
NM_001289937.2:c.3160-329G>T	NP_001276866.1:n.3160-329G>T
NM_001382782.1:c.3135G>T	NP_001369711.1:p.Leu1045=
NM_001382783.1:c.3135G>T	NP_001369712.1:p.Leu1045=
NM_001382784.1:c.3342G>T	NP_001369713.1:p.Leu1114=
NM_001382785.1:c.3327G>T	NP_001369714.1:p.Leu1109=
NM_001382786.1:c.3306G>T	NP_001369715.1:p.Leu1102=
NM_001382787.1:c.3300G>T	NP_001369716.1:p.Leu1100=
NM_001382788.1:c.3255G>T	NP_001369717.1:p.Leu1085=
NM_001382789.1:c.3246G>T	NP_001369718.1:p.Leu1082=
NM_001382790.1:c.3222G>T	NP_001369719.1:p.Leu1074=
NM_001382791.1:c.3216G>T	NP_001369720.1:p.Leu1072=
NM_001382792.1:c.3189G>T	NP_001369721.1:p.Leu1063=
NM_001382793.1:c.3183G>T	NP_001369722.1:p.Leu1061=
NM_001382794.1:c.3183G>T	NP_001369723.1:p.Leu1061=
NM_001382795.1:c.3177G>T	NP_001369724.1:p.Leu1059=
NM_001382796.1:c.3138G>T	NP_001369725.1:p.Leu1046=
NM_001382797.1:c.3126G>T	NP_001369726.1:p.Leu1042=
NM_001382798.1:c.3069G>T	NP_001369727.1:p.Leu1023=
NM_001382799.1:c.3045G>T	NP_001369728.1:p.Leu1015=
NM_001382800.1:c.3039G>T	NP_001369729.1:p.Leu1013=
NM_001382801.1:c.3021G>T	NP_001369730.1:p.Leu1007=
NM_001382802.1:c.2967G>T	NP_001369731.1:p.Leu989=
NM_001382803.1:c.3118-329G>T	NP_001369732.1:n.3118-329G>T
NM_001382804.1:c.2397G>T	NP_001369733.1:p.Leu799=
NM_001382805.1:c.2274G>T	NP_001369734.1:p.Leu758=
NM_001382806.1:c.2187G>T	NP_001369735.1:p.Leu729=
NM_004448.4:c.3225G>T MANE Select	NP_004439.2:p.Leu1075=
NR_110535.2:n.3463G>T