Canonical Allele Identifier: CA499890299

Gene: ERBB2

Linked Data

• dbSNP Id: rs1424970907
• gnomAD v3: 17-39727537-C-T
• gnomAD v4: 17-39727537-C-T
• MyVariant Identifiers: chr17:g.37883790C>T (hg19) ; chr17:g.39727537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727537C>T , CM000679.2:g.39727537C>T	GRCh38
NC_000017.10:g.37883790C>T , CM000679.1:g.37883790C>T	GRCh37
NC_000017.9:g.35137316C>T	NCBI36
NG_007503.1:g.44398C>T , LRG_724:g.44398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3402C>T MANE Select	ENSP00000269571.4:p.Ser1134=
ENST00000269571.9:c.3402C>T	ENSP00000269571.4:p.Ser1134=
ENST00000406381.6:c.3312C>T	ENSP00000385185.2:p.Ser1104=
ENST00000445658.6:c.2574C>T	ENSP00000404047.2:p.Ser858=
ENST00000541774.5:c.3357C>T	ENSP00000446466.1:p.Ser1119=
ENST00000578373.5:c.*3192C>T	ENSP00000463427.1:n.*3192C>T
ENST00000584450.5:c.3160-152C>T	ENSP00000463714.1:n.3160-152C>T
ENST00000584601.5:c.3312C>T	ENSP00000462438.1:p.Ser1104=
NM_001005862.2:c.3312C>T , LRG_724t1:c.3312C>T	NP_001005862.1:p.Ser1104=
NM_001289936.1:c.3357C>T , LRG_724t4:c.3357C>T	NP_001276865.1:p.Ser1119=
NM_001289937.1:c.3160-152C>T	NP_001276866.1:n.3160-152C>T
NM_004448.3:c.3402C>T , LRG_724t2:c.3402C>T	NP_004439.2:p.Ser1134=
NR_110535.1:n.3726C>T
XM_024450641.1:c.3540C>T	XP_024306409.1:p.Ser1180=
XM_024450642.1:c.3495C>T	XP_024306410.1:p.Ser1165=
XM_024450643.1:c.3450C>T	XP_024306411.1:p.Ser1150=
NM_001005862.3:c.3312C>T	NP_001005862.1:p.Ser1104=
NM_001289936.2:c.3357C>T	NP_001276865.1:p.Ser1119=
NM_001289937.2:c.3160-152C>T	NP_001276866.1:n.3160-152C>T
NM_001382782.1:c.3312C>T	NP_001369711.1:p.Ser1104=
NM_001382783.1:c.3312C>T	NP_001369712.1:p.Ser1104=
NM_001382784.1:c.3519C>T	NP_001369713.1:p.Ser1173=
NM_001382785.1:c.3504C>T	NP_001369714.1:p.Ser1168=
NM_001382786.1:c.3483C>T	NP_001369715.1:p.Ser1161=
NM_001382787.1:c.3477C>T	NP_001369716.1:p.Ser1159=
NM_001382788.1:c.3432C>T	NP_001369717.1:p.Ser1144=
NM_001382789.1:c.3423C>T	NP_001369718.1:p.Ser1141=
NM_001382790.1:c.3399C>T	NP_001369719.1:p.Ser1133=
NM_001382791.1:c.3393C>T	NP_001369720.1:p.Ser1131=
NM_001382792.1:c.3366C>T	NP_001369721.1:p.Ser1122=
NM_001382793.1:c.3360C>T	NP_001369722.1:p.Ser1120=
NM_001382794.1:c.3360C>T	NP_001369723.1:p.Ser1120=
NM_001382795.1:c.3354C>T	NP_001369724.1:p.Ser1118=
NM_001382796.1:c.3315C>T	NP_001369725.1:p.Ser1105=
NM_001382797.1:c.3303C>T	NP_001369726.1:p.Ser1101=
NM_001382798.1:c.3246C>T	NP_001369727.1:p.Ser1082=
NM_001382799.1:c.3222C>T	NP_001369728.1:p.Ser1074=
NM_001382800.1:c.3216C>T	NP_001369729.1:p.Ser1072=
NM_001382801.1:c.3198C>T	NP_001369730.1:p.Ser1066=
NM_001382802.1:c.3144C>T	NP_001369731.1:p.Ser1048=
NM_001382803.1:c.3118-152C>T	NP_001369732.1:n.3118-152C>T
NM_001382804.1:c.2574C>T	NP_001369733.1:p.Ser858=
NM_001382805.1:c.2451C>T	NP_001369734.1:p.Ser817=
NM_001382806.1:c.2364C>T	NP_001369735.1:p.Ser788=
NM_004448.4:c.3402C>T MANE Select	NP_004439.2:p.Ser1134=
NR_110535.2:n.3640C>T