Canonical Allele Identifier: CA399310281

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143236983
• MyVariant Identifiers: chr17:g.37883596G>C (hg19) ; chr17:g.39727343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727343G>C , CM000679.2:g.39727343G>C	GRCh38
NC_000017.10:g.37883596G>C , CM000679.1:g.37883596G>C	GRCh37
NC_000017.9:g.35137122G>C	NCBI36
NG_007503.1:g.44204G>C , LRG_724:g.44204G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3208G>C MANE Select	ENSP00000269571.4:p.Ala1070Pro
ENST00000269571.9:c.3208G>C	ENSP00000269571.4:p.Ala1070Pro
ENST00000406381.6:c.3118G>C	ENSP00000385185.2:p.Ala1040Pro
ENST00000445658.6:c.2380G>C	ENSP00000404047.2:p.Ala794Pro
ENST00000541774.5:c.3163G>C	ENSP00000446466.1:p.Ala1055Pro
ENST00000578373.5:c.*2998G>C	ENSP00000463427.1:n.*2998G>C
ENST00000584450.5:c.3159+340G>C	ENSP00000463714.1:n.3159+340G>C
ENST00000584601.5:c.3118G>C	ENSP00000462438.1:p.Ala1040Pro
NM_001005862.2:c.3118G>C , LRG_724t1:c.3118G>C	NP_001005862.1:p.Ala1040Pro
NM_001289936.1:c.3163G>C , LRG_724t4:c.3163G>C	NP_001276865.1:p.Ala1055Pro
NM_001289937.1:c.3159+340G>C	NP_001276866.1:n.3159+340G>C
NM_004448.3:c.3208G>C , LRG_724t2:c.3208G>C	NP_004439.2:p.Ala1070Pro
NR_110535.1:n.3532G>C
XM_024450641.1:c.3346G>C	XP_024306409.1:p.Ala1116Pro
XM_024450642.1:c.3301G>C	XP_024306410.1:p.Ala1101Pro
XM_024450643.1:c.3256G>C	XP_024306411.1:p.Ala1086Pro
NM_001005862.3:c.3118G>C	NP_001005862.1:p.Ala1040Pro
NM_001289936.2:c.3163G>C	NP_001276865.1:p.Ala1055Pro
NM_001289937.2:c.3159+340G>C	NP_001276866.1:n.3159+340G>C
NM_001382782.1:c.3118G>C	NP_001369711.1:p.Ala1040Pro
NM_001382783.1:c.3118G>C	NP_001369712.1:p.Ala1040Pro
NM_001382784.1:c.3325G>C	NP_001369713.1:p.Ala1109Pro
NM_001382785.1:c.3310G>C	NP_001369714.1:p.Ala1104Pro
NM_001382786.1:c.3289G>C	NP_001369715.1:p.Ala1097Pro
NM_001382787.1:c.3283G>C	NP_001369716.1:p.Ala1095Pro
NM_001382788.1:c.3238G>C	NP_001369717.1:p.Ala1080Pro
NM_001382789.1:c.3229G>C	NP_001369718.1:p.Ala1077Pro
NM_001382790.1:c.3205G>C	NP_001369719.1:p.Ala1069Pro
NM_001382791.1:c.3199G>C	NP_001369720.1:p.Ala1067Pro
NM_001382792.1:c.3172G>C	NP_001369721.1:p.Ala1058Pro
NM_001382793.1:c.3166G>C	NP_001369722.1:p.Ala1056Pro
NM_001382794.1:c.3166G>C	NP_001369723.1:p.Ala1056Pro
NM_001382795.1:c.3160G>C	NP_001369724.1:p.Ala1054Pro
NM_001382796.1:c.3121G>C	NP_001369725.1:p.Ala1041Pro
NM_001382797.1:c.3109G>C	NP_001369726.1:p.Ala1037Pro
NM_001382798.1:c.3052G>C	NP_001369727.1:p.Ala1018Pro
NM_001382799.1:c.3028G>C	NP_001369728.1:p.Ala1010Pro
NM_001382800.1:c.3022G>C	NP_001369729.1:p.Ala1008Pro
NM_001382801.1:c.3004G>C	NP_001369730.1:p.Ala1002Pro
NM_001382802.1:c.2950G>C	NP_001369731.1:p.Ala984Pro
NM_001382803.1:c.3117+340G>C	NP_001369732.1:n.3117+340G>C
NM_001382804.1:c.2380G>C	NP_001369733.1:p.Ala794Pro
NM_001382805.1:c.2257G>C	NP_001369734.1:p.Ala753Pro
NM_001382806.1:c.2170G>C	NP_001369735.1:p.Ala724Pro
NM_004448.4:c.3208G>C MANE Select	NP_004439.2:p.Ala1070Pro
NR_110535.2:n.3446G>C