Canonical Allele Identifier: CA399313019

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143293029
• gnomAD v4: 17-39727754-G-T
• MyVariant Identifiers: chr17:g.37884007G>T (hg19) ; chr17:g.39727754G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727754G>T , CM000679.2:g.39727754G>T	GRCh38
NC_000017.10:g.37884007G>T , CM000679.1:g.37884007G>T	GRCh37
NC_000017.9:g.35137533G>T	NCBI36
NG_007503.1:g.44615G>T , LRG_724:g.44615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3478G>T MANE Select	ENSP00000269571.4:p.Ala1160Ser
ENST00000269571.9:c.3478G>T	ENSP00000269571.4:p.Ala1160Ser
ENST00000406381.6:c.3388G>T	ENSP00000385185.2:p.Ala1130Ser
ENST00000445658.6:c.2650G>T	ENSP00000404047.2:p.Ala884Ser
ENST00000541774.5:c.3433G>T	ENSP00000446466.1:p.Ala1145Ser
ENST00000578373.5:c.*3268G>T	ENSP00000463427.1:n.*3268G>T
ENST00000584450.5:c.*57G>T	ENSP00000463714.1:n.*57G>T
ENST00000584601.5:c.3388G>T	ENSP00000462438.1:p.Ala1130Ser
NM_001005862.2:c.3388G>T , LRG_724t1:c.3388G>T	NP_001005862.1:p.Ala1130Ser
NM_001289936.1:c.3433G>T , LRG_724t4:c.3433G>T	NP_001276865.1:p.Ala1145Ser
NM_001289937.1:c.*57G>T	NP_001276866.1:n.*57G>T
NM_004448.3:c.3478G>T , LRG_724t2:c.3478G>T	NP_004439.2:p.Ala1160Ser
NR_110535.1:n.3802G>T
XM_024450641.1:c.3616G>T	XP_024306409.1:p.Ala1206Ser
XM_024450642.1:c.3571G>T	XP_024306410.1:p.Ala1191Ser
XM_024450643.1:c.3526G>T	XP_024306411.1:p.Ala1176Ser
NM_001005862.3:c.3388G>T	NP_001005862.1:p.Ala1130Ser
NM_001289936.2:c.3433G>T	NP_001276865.1:p.Ala1145Ser
NM_001289937.2:c.*57G>T	NP_001276866.1:n.*57G>T
NM_001382782.1:c.3388G>T	NP_001369711.1:p.Ala1130Ser
NM_001382783.1:c.3388G>T	NP_001369712.1:p.Ala1130Ser
NM_001382784.1:c.3595G>T	NP_001369713.1:p.Ala1199Ser
NM_001382785.1:c.3580G>T	NP_001369714.1:p.Ala1194Ser
NM_001382786.1:c.3559G>T	NP_001369715.1:p.Ala1187Ser
NM_001382787.1:c.3553G>T	NP_001369716.1:p.Ala1185Ser
NM_001382788.1:c.3508G>T	NP_001369717.1:p.Ala1170Ser
NM_001382789.1:c.3499G>T	NP_001369718.1:p.Ala1167Ser
NM_001382790.1:c.3475G>T	NP_001369719.1:p.Ala1159Ser
NM_001382791.1:c.3469G>T	NP_001369720.1:p.Ala1157Ser
NM_001382792.1:c.3442G>T	NP_001369721.1:p.Ala1148Ser
NM_001382793.1:c.3436G>T	NP_001369722.1:p.Ala1146Ser
NM_001382794.1:c.3436G>T	NP_001369723.1:p.Ala1146Ser
NM_001382795.1:c.3430G>T	NP_001369724.1:p.Ala1144Ser
NM_001382796.1:c.3391G>T	NP_001369725.1:p.Ala1131Ser
NM_001382797.1:c.3379G>T	NP_001369726.1:p.Ala1127Ser
NM_001382798.1:c.3322G>T	NP_001369727.1:p.Ala1108Ser
NM_001382799.1:c.3298G>T	NP_001369728.1:p.Ala1100Ser
NM_001382800.1:c.3292G>T	NP_001369729.1:p.Ala1098Ser
NM_001382801.1:c.3274G>T	NP_001369730.1:p.Ala1092Ser
NM_001382802.1:c.3220G>T	NP_001369731.1:p.Ala1074Ser
NM_001382803.1:c.*57G>T	NP_001369732.1:n.*57G>T
NM_001382804.1:c.2650G>T	NP_001369733.1:p.Ala884Ser
NM_001382805.1:c.2527G>T	NP_001369734.1:p.Ala843Ser
NM_001382806.1:c.2440G>T	NP_001369735.1:p.Ala814Ser
NM_004448.4:c.3478G>T MANE Select	NP_004439.2:p.Ala1160Ser
NR_110535.2:n.3716G>T