Canonical Allele Identifier: CA399310290

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059831997
• gnomAD v4: 17-39727346-C-A
• MyVariant Identifiers: chr17:g.37883599C>A (hg19) ; chr17:g.39727346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727346C>A , CM000679.2:g.39727346C>A	GRCh38
NC_000017.10:g.37883599C>A , CM000679.1:g.37883599C>A	GRCh37
NC_000017.9:g.35137125C>A	NCBI36
NG_007503.1:g.44207C>A , LRG_724:g.44207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3211C>A MANE Select	ENSP00000269571.4:p.Pro1071Thr
ENST00000269571.9:c.3211C>A	ENSP00000269571.4:p.Pro1071Thr
ENST00000406381.6:c.3121C>A	ENSP00000385185.2:p.Pro1041Thr
ENST00000445658.6:c.2383C>A	ENSP00000404047.2:p.Pro795Thr
ENST00000541774.5:c.3166C>A	ENSP00000446466.1:p.Pro1056Thr
ENST00000578373.5:c.*3001C>A	ENSP00000463427.1:n.*3001C>A
ENST00000584450.5:c.3160-343C>A	ENSP00000463714.1:n.3160-343C>A
ENST00000584601.5:c.3121C>A	ENSP00000462438.1:p.Pro1041Thr
NM_001005862.2:c.3121C>A , LRG_724t1:c.3121C>A	NP_001005862.1:p.Pro1041Thr
NM_001289936.1:c.3166C>A , LRG_724t4:c.3166C>A	NP_001276865.1:p.Pro1056Thr
NM_001289937.1:c.3160-343C>A	NP_001276866.1:n.3160-343C>A
NM_004448.3:c.3211C>A , LRG_724t2:c.3211C>A	NP_004439.2:p.Pro1071Thr
NR_110535.1:n.3535C>A
XM_024450641.1:c.3349C>A	XP_024306409.1:p.Pro1117Thr
XM_024450642.1:c.3304C>A	XP_024306410.1:p.Pro1102Thr
XM_024450643.1:c.3259C>A	XP_024306411.1:p.Pro1087Thr
NM_001005862.3:c.3121C>A	NP_001005862.1:p.Pro1041Thr
NM_001289936.2:c.3166C>A	NP_001276865.1:p.Pro1056Thr
NM_001289937.2:c.3160-343C>A	NP_001276866.1:n.3160-343C>A
NM_001382782.1:c.3121C>A	NP_001369711.1:p.Pro1041Thr
NM_001382783.1:c.3121C>A	NP_001369712.1:p.Pro1041Thr
NM_001382784.1:c.3328C>A	NP_001369713.1:p.Pro1110Thr
NM_001382785.1:c.3313C>A	NP_001369714.1:p.Pro1105Thr
NM_001382786.1:c.3292C>A	NP_001369715.1:p.Pro1098Thr
NM_001382787.1:c.3286C>A	NP_001369716.1:p.Pro1096Thr
NM_001382788.1:c.3241C>A	NP_001369717.1:p.Pro1081Thr
NM_001382789.1:c.3232C>A	NP_001369718.1:p.Pro1078Thr
NM_001382790.1:c.3208C>A	NP_001369719.1:p.Pro1070Thr
NM_001382791.1:c.3202C>A	NP_001369720.1:p.Pro1068Thr
NM_001382792.1:c.3175C>A	NP_001369721.1:p.Pro1059Thr
NM_001382793.1:c.3169C>A	NP_001369722.1:p.Pro1057Thr
NM_001382794.1:c.3169C>A	NP_001369723.1:p.Pro1057Thr
NM_001382795.1:c.3163C>A	NP_001369724.1:p.Pro1055Thr
NM_001382796.1:c.3124C>A	NP_001369725.1:p.Pro1042Thr
NM_001382797.1:c.3112C>A	NP_001369726.1:p.Pro1038Thr
NM_001382798.1:c.3055C>A	NP_001369727.1:p.Pro1019Thr
NM_001382799.1:c.3031C>A	NP_001369728.1:p.Pro1011Thr
NM_001382800.1:c.3025C>A	NP_001369729.1:p.Pro1009Thr
NM_001382801.1:c.3007C>A	NP_001369730.1:p.Pro1003Thr
NM_001382802.1:c.2953C>A	NP_001369731.1:p.Pro985Thr
NM_001382803.1:c.3118-343C>A	NP_001369732.1:n.3118-343C>A
NM_001382804.1:c.2383C>A	NP_001369733.1:p.Pro795Thr
NM_001382805.1:c.2260C>A	NP_001369734.1:p.Pro754Thr
NM_001382806.1:c.2173C>A	NP_001369735.1:p.Pro725Thr
NM_004448.4:c.3211C>A MANE Select	NP_004439.2:p.Pro1071Thr
NR_110535.2:n.3449C>A