Canonical Allele Identifier: CA399313028

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143293146
• gnomAD v4: 17-39727755-C-T
• MyVariant Identifiers: chr17:g.37884008C>T (hg19) ; chr17:g.39727755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727755C>T , CM000679.2:g.39727755C>T	GRCh38
NC_000017.10:g.37884008C>T , CM000679.1:g.37884008C>T	GRCh37
NC_000017.9:g.35137534C>T	NCBI36
NG_007503.1:g.44616C>T , LRG_724:g.44616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3479C>T MANE Select	ENSP00000269571.4:p.Ala1160Val
ENST00000269571.9:c.3479C>T	ENSP00000269571.4:p.Ala1160Val
ENST00000406381.6:c.3389C>T	ENSP00000385185.2:p.Ala1130Val
ENST00000445658.6:c.2651C>T	ENSP00000404047.2:p.Ala884Val
ENST00000541774.5:c.3434C>T	ENSP00000446466.1:p.Ala1145Val
ENST00000578373.5:c.*3269C>T	ENSP00000463427.1:n.*3269C>T
ENST00000584450.5:c.*58C>T	ENSP00000463714.1:n.*58C>T
ENST00000584601.5:c.3389C>T	ENSP00000462438.1:p.Ala1130Val
NM_001005862.2:c.3389C>T , LRG_724t1:c.3389C>T	NP_001005862.1:p.Ala1130Val
NM_001289936.1:c.3434C>T , LRG_724t4:c.3434C>T	NP_001276865.1:p.Ala1145Val
NM_001289937.1:c.*58C>T	NP_001276866.1:n.*58C>T
NM_004448.3:c.3479C>T , LRG_724t2:c.3479C>T	NP_004439.2:p.Ala1160Val
NR_110535.1:n.3803C>T
XM_024450641.1:c.3617C>T	XP_024306409.1:p.Ala1206Val
XM_024450642.1:c.3572C>T	XP_024306410.1:p.Ala1191Val
XM_024450643.1:c.3527C>T	XP_024306411.1:p.Ala1176Val
NM_001005862.3:c.3389C>T	NP_001005862.1:p.Ala1130Val
NM_001289936.2:c.3434C>T	NP_001276865.1:p.Ala1145Val
NM_001289937.2:c.*58C>T	NP_001276866.1:n.*58C>T
NM_001382782.1:c.3389C>T	NP_001369711.1:p.Ala1130Val
NM_001382783.1:c.3389C>T	NP_001369712.1:p.Ala1130Val
NM_001382784.1:c.3596C>T	NP_001369713.1:p.Ala1199Val
NM_001382785.1:c.3581C>T	NP_001369714.1:p.Ala1194Val
NM_001382786.1:c.3560C>T	NP_001369715.1:p.Ala1187Val
NM_001382787.1:c.3554C>T	NP_001369716.1:p.Ala1185Val
NM_001382788.1:c.3509C>T	NP_001369717.1:p.Ala1170Val
NM_001382789.1:c.3500C>T	NP_001369718.1:p.Ala1167Val
NM_001382790.1:c.3476C>T	NP_001369719.1:p.Ala1159Val
NM_001382791.1:c.3470C>T	NP_001369720.1:p.Ala1157Val
NM_001382792.1:c.3443C>T	NP_001369721.1:p.Ala1148Val
NM_001382793.1:c.3437C>T	NP_001369722.1:p.Ala1146Val
NM_001382794.1:c.3437C>T	NP_001369723.1:p.Ala1146Val
NM_001382795.1:c.3431C>T	NP_001369724.1:p.Ala1144Val
NM_001382796.1:c.3392C>T	NP_001369725.1:p.Ala1131Val
NM_001382797.1:c.3380C>T	NP_001369726.1:p.Ala1127Val
NM_001382798.1:c.3323C>T	NP_001369727.1:p.Ala1108Val
NM_001382799.1:c.3299C>T	NP_001369728.1:p.Ala1100Val
NM_001382800.1:c.3293C>T	NP_001369729.1:p.Ala1098Val
NM_001382801.1:c.3275C>T	NP_001369730.1:p.Ala1092Val
NM_001382802.1:c.3221C>T	NP_001369731.1:p.Ala1074Val
NM_001382803.1:c.*58C>T	NP_001369732.1:n.*58C>T
NM_001382804.1:c.2651C>T	NP_001369733.1:p.Ala884Val
NM_001382805.1:c.2528C>T	NP_001369734.1:p.Ala843Val
NM_001382806.1:c.2441C>T	NP_001369735.1:p.Ala814Val
NM_004448.4:c.3479C>T MANE Select	NP_004439.2:p.Ala1160Val
NR_110535.2:n.3717C>T