Canonical Allele Identifier: CA399313302

Gene: ERBB2

Linked Data

• dbSNP Id: rs1351450168
• gnomAD v2: 17-37884050-C-T
• gnomAD v3: 17-39727797-C-T
• gnomAD v4: 17-39727797-C-T
• COSMIC: COSM4990990 ; COSM4990991
• MyVariant Identifiers: chr17:g.37884050C>T (hg19) ; chr17:g.39727797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727797C>T , CM000679.2:g.39727797C>T	GRCh38
NC_000017.10:g.37884050C>T , CM000679.1:g.37884050C>T	GRCh37
NC_000017.9:g.35137576C>T	NCBI36
NG_007503.1:g.44658C>T , LRG_724:g.44658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3521C>T MANE Select	ENSP00000269571.4:p.Ser1174Phe
ENST00000269571.9:c.3521C>T	ENSP00000269571.4:p.Ser1174Phe
ENST00000406381.6:c.3431C>T	ENSP00000385185.2:p.Ser1144Phe
ENST00000445658.6:c.2693C>T	ENSP00000404047.2:p.Ser898Phe
ENST00000541774.5:c.3476C>T	ENSP00000446466.1:p.Ser1159Phe
ENST00000578373.5:c.*3311C>T	ENSP00000463427.1:n.*3311C>T
ENST00000584450.5:c.*100C>T	ENSP00000463714.1:n.*100C>T
ENST00000584601.5:c.3431C>T	ENSP00000462438.1:p.Ser1144Phe
NM_001005862.2:c.3431C>T , LRG_724t1:c.3431C>T	NP_001005862.1:p.Ser1144Phe
NM_001289936.1:c.3476C>T , LRG_724t4:c.3476C>T	NP_001276865.1:p.Ser1159Phe
NM_001289937.1:c.*100C>T	NP_001276866.1:n.*100C>T
NM_004448.3:c.3521C>T , LRG_724t2:c.3521C>T	NP_004439.2:p.Ser1174Phe
NR_110535.1:n.3845C>T
XM_024450641.1:c.3659C>T	XP_024306409.1:p.Ser1220Phe
XM_024450642.1:c.3614C>T	XP_024306410.1:p.Ser1205Phe
XM_024450643.1:c.3569C>T	XP_024306411.1:p.Ser1190Phe
NM_001005862.3:c.3431C>T	NP_001005862.1:p.Ser1144Phe
NM_001289936.2:c.3476C>T	NP_001276865.1:p.Ser1159Phe
NM_001289937.2:c.*100C>T	NP_001276866.1:n.*100C>T
NM_001382782.1:c.3431C>T	NP_001369711.1:p.Ser1144Phe
NM_001382783.1:c.3431C>T	NP_001369712.1:p.Ser1144Phe
NM_001382784.1:c.3638C>T	NP_001369713.1:p.Ser1213Phe
NM_001382785.1:c.3623C>T	NP_001369714.1:p.Ser1208Phe
NM_001382786.1:c.3602C>T	NP_001369715.1:p.Ser1201Phe
NM_001382787.1:c.3596C>T	NP_001369716.1:p.Ser1199Phe
NM_001382788.1:c.3551C>T	NP_001369717.1:p.Ser1184Phe
NM_001382789.1:c.3542C>T	NP_001369718.1:p.Ser1181Phe
NM_001382790.1:c.3518C>T	NP_001369719.1:p.Ser1173Phe
NM_001382791.1:c.3512C>T	NP_001369720.1:p.Ser1171Phe
NM_001382792.1:c.3485C>T	NP_001369721.1:p.Ser1162Phe
NM_001382793.1:c.3479C>T	NP_001369722.1:p.Ser1160Phe
NM_001382794.1:c.3479C>T	NP_001369723.1:p.Ser1160Phe
NM_001382795.1:c.3473C>T	NP_001369724.1:p.Ser1158Phe
NM_001382796.1:c.3434C>T	NP_001369725.1:p.Ser1145Phe
NM_001382797.1:c.3422C>T	NP_001369726.1:p.Ser1141Phe
NM_001382798.1:c.3365C>T	NP_001369727.1:p.Ser1122Phe
NM_001382799.1:c.3341C>T	NP_001369728.1:p.Ser1114Phe
NM_001382800.1:c.3335C>T	NP_001369729.1:p.Ser1112Phe
NM_001382801.1:c.3317C>T	NP_001369730.1:p.Ser1106Phe
NM_001382802.1:c.3263C>T	NP_001369731.1:p.Ser1088Phe
NM_001382803.1:c.*100C>T	NP_001369732.1:n.*100C>T
NM_001382804.1:c.2693C>T	NP_001369733.1:p.Ser898Phe
NM_001382805.1:c.2570C>T	NP_001369734.1:p.Ser857Phe
NM_001382806.1:c.2483C>T	NP_001369735.1:p.Ser828Phe
NM_004448.4:c.3521C>T MANE Select	NP_004439.2:p.Ser1174Phe
NR_110535.2:n.3759C>T