Canonical Allele Identifier: CA399313948

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37884139G>C (hg19) ; chr17:g.39727886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727886G>C , CM000679.2:g.39727886G>C	GRCh38
NC_000017.10:g.37884139G>C , CM000679.1:g.37884139G>C	GRCh37
NC_000017.9:g.35137665G>C	NCBI36
NG_007503.1:g.44747G>C , LRG_724:g.44747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3610G>C MANE Select	ENSP00000269571.4:p.Ala1204Pro
ENST00000269571.9:c.3610G>C	ENSP00000269571.4:p.Ala1204Pro
ENST00000406381.6:c.3520G>C	ENSP00000385185.2:p.Ala1174Pro
ENST00000445658.6:c.2782G>C	ENSP00000404047.2:p.Ala928Pro
ENST00000541774.5:c.3565G>C	ENSP00000446466.1:p.Ala1189Pro
ENST00000578373.5:c.*3400G>C	ENSP00000463427.1:n.*3400G>C
ENST00000584450.5:c.*189G>C	ENSP00000463714.1:n.*189G>C
ENST00000584601.5:c.3520G>C	ENSP00000462438.1:p.Ala1174Pro
NM_001005862.2:c.3520G>C , LRG_724t1:c.3520G>C	NP_001005862.1:p.Ala1174Pro
NM_001289936.1:c.3565G>C , LRG_724t4:c.3565G>C	NP_001276865.1:p.Ala1189Pro
NM_001289937.1:c.*189G>C	NP_001276866.1:n.*189G>C
NM_004448.3:c.3610G>C , LRG_724t2:c.3610G>C	NP_004439.2:p.Ala1204Pro
NR_110535.1:n.3934G>C
XM_024450641.1:c.3748G>C	XP_024306409.1:p.Ala1250Pro
XM_024450642.1:c.3703G>C	XP_024306410.1:p.Ala1235Pro
XM_024450643.1:c.3658G>C	XP_024306411.1:p.Ala1220Pro
NM_001005862.3:c.3520G>C	NP_001005862.1:p.Ala1174Pro
NM_001289936.2:c.3565G>C	NP_001276865.1:p.Ala1189Pro
NM_001289937.2:c.*189G>C	NP_001276866.1:n.*189G>C
NM_001382782.1:c.3520G>C	NP_001369711.1:p.Ala1174Pro
NM_001382783.1:c.3520G>C	NP_001369712.1:p.Ala1174Pro
NM_001382784.1:c.3727G>C	NP_001369713.1:p.Ala1243Pro
NM_001382785.1:c.3712G>C	NP_001369714.1:p.Ala1238Pro
NM_001382786.1:c.3691G>C	NP_001369715.1:p.Ala1231Pro
NM_001382787.1:c.3685G>C	NP_001369716.1:p.Ala1229Pro
NM_001382788.1:c.3640G>C	NP_001369717.1:p.Ala1214Pro
NM_001382789.1:c.3631G>C	NP_001369718.1:p.Ala1211Pro
NM_001382790.1:c.3607G>C	NP_001369719.1:p.Ala1203Pro
NM_001382791.1:c.3601G>C	NP_001369720.1:p.Ala1201Pro
NM_001382792.1:c.3574G>C	NP_001369721.1:p.Ala1192Pro
NM_001382793.1:c.3568G>C	NP_001369722.1:p.Ala1190Pro
NM_001382794.1:c.3568G>C	NP_001369723.1:p.Ala1190Pro
NM_001382795.1:c.3562G>C	NP_001369724.1:p.Ala1188Pro
NM_001382796.1:c.3523G>C	NP_001369725.1:p.Ala1175Pro
NM_001382797.1:c.3511G>C	NP_001369726.1:p.Ala1171Pro
NM_001382798.1:c.3454G>C	NP_001369727.1:p.Ala1152Pro
NM_001382799.1:c.3430G>C	NP_001369728.1:p.Ala1144Pro
NM_001382800.1:c.3424G>C	NP_001369729.1:p.Ala1142Pro
NM_001382801.1:c.3406G>C	NP_001369730.1:p.Ala1136Pro
NM_001382802.1:c.3352G>C	NP_001369731.1:p.Ala1118Pro
NM_001382803.1:c.*189G>C	NP_001369732.1:n.*189G>C
NM_001382804.1:c.2782G>C	NP_001369733.1:p.Ala928Pro
NM_001382805.1:c.2659G>C	NP_001369734.1:p.Ala887Pro
NM_001382806.1:c.2572G>C	NP_001369735.1:p.Ala858Pro
NM_004448.4:c.3610G>C MANE Select	NP_004439.2:p.Ala1204Pro
NR_110535.2:n.3848G>C