Canonical Allele Identifier: CA399310652

Gene: ERBB2

Linked Data

• dbSNP Id: rs1597891766
• MyVariant Identifiers: chr17:g.37883657T>C (hg19) ; chr17:g.39727404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727404T>C , CM000679.2:g.39727404T>C	GRCh38
NC_000017.10:g.37883657T>C , CM000679.1:g.37883657T>C	GRCh37
NC_000017.9:g.35137183T>C	NCBI36
NG_007503.1:g.44265T>C , LRG_724:g.44265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3269T>C MANE Select	ENSP00000269571.4:p.Leu1090Pro
ENST00000269571.9:c.3269T>C	ENSP00000269571.4:p.Leu1090Pro
ENST00000406381.6:c.3179T>C	ENSP00000385185.2:p.Leu1060Pro
ENST00000445658.6:c.2441T>C	ENSP00000404047.2:p.Leu814Pro
ENST00000541774.5:c.3224T>C	ENSP00000446466.1:p.Leu1075Pro
ENST00000578373.5:c.*3059T>C	ENSP00000463427.1:n.*3059T>C
ENST00000584450.5:c.3160-285T>C	ENSP00000463714.1:n.3160-285T>C
ENST00000584601.5:c.3179T>C	ENSP00000462438.1:p.Leu1060Pro
NM_001005862.2:c.3179T>C , LRG_724t1:c.3179T>C	NP_001005862.1:p.Leu1060Pro
NM_001289936.1:c.3224T>C , LRG_724t4:c.3224T>C	NP_001276865.1:p.Leu1075Pro
NM_001289937.1:c.3160-285T>C	NP_001276866.1:n.3160-285T>C
NM_004448.3:c.3269T>C , LRG_724t2:c.3269T>C	NP_004439.2:p.Leu1090Pro
NR_110535.1:n.3593T>C
XM_024450641.1:c.3407T>C	XP_024306409.1:p.Leu1136Pro
XM_024450642.1:c.3362T>C	XP_024306410.1:p.Leu1121Pro
XM_024450643.1:c.3317T>C	XP_024306411.1:p.Leu1106Pro
NM_001005862.3:c.3179T>C	NP_001005862.1:p.Leu1060Pro
NM_001289936.2:c.3224T>C	NP_001276865.1:p.Leu1075Pro
NM_001289937.2:c.3160-285T>C	NP_001276866.1:n.3160-285T>C
NM_001382782.1:c.3179T>C	NP_001369711.1:p.Leu1060Pro
NM_001382783.1:c.3179T>C	NP_001369712.1:p.Leu1060Pro
NM_001382784.1:c.3386T>C	NP_001369713.1:p.Leu1129Pro
NM_001382785.1:c.3371T>C	NP_001369714.1:p.Leu1124Pro
NM_001382786.1:c.3350T>C	NP_001369715.1:p.Leu1117Pro
NM_001382787.1:c.3344T>C	NP_001369716.1:p.Leu1115Pro
NM_001382788.1:c.3299T>C	NP_001369717.1:p.Leu1100Pro
NM_001382789.1:c.3290T>C	NP_001369718.1:p.Leu1097Pro
NM_001382790.1:c.3266T>C	NP_001369719.1:p.Leu1089Pro
NM_001382791.1:c.3260T>C	NP_001369720.1:p.Leu1087Pro
NM_001382792.1:c.3233T>C	NP_001369721.1:p.Leu1078Pro
NM_001382793.1:c.3227T>C	NP_001369722.1:p.Leu1076Pro
NM_001382794.1:c.3227T>C	NP_001369723.1:p.Leu1076Pro
NM_001382795.1:c.3221T>C	NP_001369724.1:p.Leu1074Pro
NM_001382796.1:c.3182T>C	NP_001369725.1:p.Leu1061Pro
NM_001382797.1:c.3170T>C	NP_001369726.1:p.Leu1057Pro
NM_001382798.1:c.3113T>C	NP_001369727.1:p.Leu1038Pro
NM_001382799.1:c.3089T>C	NP_001369728.1:p.Leu1030Pro
NM_001382800.1:c.3083T>C	NP_001369729.1:p.Leu1028Pro
NM_001382801.1:c.3065T>C	NP_001369730.1:p.Leu1022Pro
NM_001382802.1:c.3011T>C	NP_001369731.1:p.Leu1004Pro
NM_001382803.1:c.3118-285T>C	NP_001369732.1:n.3118-285T>C
NM_001382804.1:c.2441T>C	NP_001369733.1:p.Leu814Pro
NM_001382805.1:c.2318T>C	NP_001369734.1:p.Leu773Pro
NM_001382806.1:c.2231T>C	NP_001369735.1:p.Leu744Pro
NM_004448.4:c.3269T>C MANE Select	NP_004439.2:p.Leu1090Pro
NR_110535.2:n.3507T>C