Canonical Allele Identifier: CA399310414

Gene: ERBB2

Linked Data

• dbSNP Id: rs1168483412
• gnomAD v2: 17-37883620-T-C
• gnomAD v3: 17-39727367-T-C
• gnomAD v4: 17-39727367-T-C
• MyVariant Identifiers: chr17:g.37883620T>C (hg19) ; chr17:g.39727367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727367T>C , CM000679.2:g.39727367T>C	GRCh38
NC_000017.10:g.37883620T>C , CM000679.1:g.37883620T>C	GRCh37
NC_000017.9:g.35137146T>C	NCBI36
NG_007503.1:g.44228T>C , LRG_724:g.44228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3232T>C MANE Select	ENSP00000269571.4:p.Ser1078Pro
ENST00000269571.9:c.3232T>C	ENSP00000269571.4:p.Ser1078Pro
ENST00000406381.6:c.3142T>C	ENSP00000385185.2:p.Ser1048Pro
ENST00000445658.6:c.2404T>C	ENSP00000404047.2:p.Ser802Pro
ENST00000541774.5:c.3187T>C	ENSP00000446466.1:p.Ser1063Pro
ENST00000578373.5:c.*3022T>C	ENSP00000463427.1:n.*3022T>C
ENST00000584450.5:c.3160-322T>C	ENSP00000463714.1:n.3160-322T>C
ENST00000584601.5:c.3142T>C	ENSP00000462438.1:p.Ser1048Pro
NM_001005862.2:c.3142T>C , LRG_724t1:c.3142T>C	NP_001005862.1:p.Ser1048Pro
NM_001289936.1:c.3187T>C , LRG_724t4:c.3187T>C	NP_001276865.1:p.Ser1063Pro
NM_001289937.1:c.3160-322T>C	NP_001276866.1:n.3160-322T>C
NM_004448.3:c.3232T>C , LRG_724t2:c.3232T>C	NP_004439.2:p.Ser1078Pro
NR_110535.1:n.3556T>C
XM_024450641.1:c.3370T>C	XP_024306409.1:p.Ser1124Pro
XM_024450642.1:c.3325T>C	XP_024306410.1:p.Ser1109Pro
XM_024450643.1:c.3280T>C	XP_024306411.1:p.Ser1094Pro
NM_001005862.3:c.3142T>C	NP_001005862.1:p.Ser1048Pro
NM_001289936.2:c.3187T>C	NP_001276865.1:p.Ser1063Pro
NM_001289937.2:c.3160-322T>C	NP_001276866.1:n.3160-322T>C
NM_001382782.1:c.3142T>C	NP_001369711.1:p.Ser1048Pro
NM_001382783.1:c.3142T>C	NP_001369712.1:p.Ser1048Pro
NM_001382784.1:c.3349T>C	NP_001369713.1:p.Ser1117Pro
NM_001382785.1:c.3334T>C	NP_001369714.1:p.Ser1112Pro
NM_001382786.1:c.3313T>C	NP_001369715.1:p.Ser1105Pro
NM_001382787.1:c.3307T>C	NP_001369716.1:p.Ser1103Pro
NM_001382788.1:c.3262T>C	NP_001369717.1:p.Ser1088Pro
NM_001382789.1:c.3253T>C	NP_001369718.1:p.Ser1085Pro
NM_001382790.1:c.3229T>C	NP_001369719.1:p.Ser1077Pro
NM_001382791.1:c.3223T>C	NP_001369720.1:p.Ser1075Pro
NM_001382792.1:c.3196T>C	NP_001369721.1:p.Ser1066Pro
NM_001382793.1:c.3190T>C	NP_001369722.1:p.Ser1064Pro
NM_001382794.1:c.3190T>C	NP_001369723.1:p.Ser1064Pro
NM_001382795.1:c.3184T>C	NP_001369724.1:p.Ser1062Pro
NM_001382796.1:c.3145T>C	NP_001369725.1:p.Ser1049Pro
NM_001382797.1:c.3133T>C	NP_001369726.1:p.Ser1045Pro
NM_001382798.1:c.3076T>C	NP_001369727.1:p.Ser1026Pro
NM_001382799.1:c.3052T>C	NP_001369728.1:p.Ser1018Pro
NM_001382800.1:c.3046T>C	NP_001369729.1:p.Ser1016Pro
NM_001382801.1:c.3028T>C	NP_001369730.1:p.Ser1010Pro
NM_001382802.1:c.2974T>C	NP_001369731.1:p.Ser992Pro
NM_001382803.1:c.3118-322T>C	NP_001369732.1:n.3118-322T>C
NM_001382804.1:c.2404T>C	NP_001369733.1:p.Ser802Pro
NM_001382805.1:c.2281T>C	NP_001369734.1:p.Ser761Pro
NM_001382806.1:c.2194T>C	NP_001369735.1:p.Ser732Pro
NM_004448.4:c.3232T>C MANE Select	NP_004439.2:p.Ser1078Pro
NR_110535.2:n.3470T>C