Canonical Allele Identifier: CA399312616

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143253545
• gnomAD v4: 17-39727482-C-T
• MyVariant Identifiers: chr17:g.37883735C>T (hg19) ; chr17:g.39727482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727482C>T , CM000679.2:g.39727482C>T	GRCh38
NC_000017.10:g.37883735C>T , CM000679.1:g.37883735C>T	GRCh37
NC_000017.9:g.35137261C>T	NCBI36
NG_007503.1:g.44343C>T , LRG_724:g.44343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3347C>T MANE Select	ENSP00000269571.4:p.Pro1116Leu
ENST00000269571.9:c.3347C>T	ENSP00000269571.4:p.Pro1116Leu
ENST00000406381.6:c.3257C>T	ENSP00000385185.2:p.Pro1086Leu
ENST00000445658.6:c.2519C>T	ENSP00000404047.2:p.Pro840Leu
ENST00000541774.5:c.3302C>T	ENSP00000446466.1:p.Pro1101Leu
ENST00000578373.5:c.*3137C>T	ENSP00000463427.1:n.*3137C>T
ENST00000584450.5:c.3160-207C>T	ENSP00000463714.1:n.3160-207C>T
ENST00000584601.5:c.3257C>T	ENSP00000462438.1:p.Pro1086Leu
NM_001005862.2:c.3257C>T , LRG_724t1:c.3257C>T	NP_001005862.1:p.Pro1086Leu
NM_001289936.1:c.3302C>T , LRG_724t4:c.3302C>T	NP_001276865.1:p.Pro1101Leu
NM_001289937.1:c.3160-207C>T	NP_001276866.1:n.3160-207C>T
NM_004448.3:c.3347C>T , LRG_724t2:c.3347C>T	NP_004439.2:p.Pro1116Leu
NR_110535.1:n.3671C>T
XM_024450641.1:c.3485C>T	XP_024306409.1:p.Pro1162Leu
XM_024450642.1:c.3440C>T	XP_024306410.1:p.Pro1147Leu
XM_024450643.1:c.3395C>T	XP_024306411.1:p.Pro1132Leu
NM_001005862.3:c.3257C>T	NP_001005862.1:p.Pro1086Leu
NM_001289936.2:c.3302C>T	NP_001276865.1:p.Pro1101Leu
NM_001289937.2:c.3160-207C>T	NP_001276866.1:n.3160-207C>T
NM_001382782.1:c.3257C>T	NP_001369711.1:p.Pro1086Leu
NM_001382783.1:c.3257C>T	NP_001369712.1:p.Pro1086Leu
NM_001382784.1:c.3464C>T	NP_001369713.1:p.Pro1155Leu
NM_001382785.1:c.3449C>T	NP_001369714.1:p.Pro1150Leu
NM_001382786.1:c.3428C>T	NP_001369715.1:p.Pro1143Leu
NM_001382787.1:c.3422C>T	NP_001369716.1:p.Pro1141Leu
NM_001382788.1:c.3377C>T	NP_001369717.1:p.Pro1126Leu
NM_001382789.1:c.3368C>T	NP_001369718.1:p.Pro1123Leu
NM_001382790.1:c.3344C>T	NP_001369719.1:p.Pro1115Leu
NM_001382791.1:c.3338C>T	NP_001369720.1:p.Pro1113Leu
NM_001382792.1:c.3311C>T	NP_001369721.1:p.Pro1104Leu
NM_001382793.1:c.3305C>T	NP_001369722.1:p.Pro1102Leu
NM_001382794.1:c.3305C>T	NP_001369723.1:p.Pro1102Leu
NM_001382795.1:c.3299C>T	NP_001369724.1:p.Pro1100Leu
NM_001382796.1:c.3260C>T	NP_001369725.1:p.Pro1087Leu
NM_001382797.1:c.3248C>T	NP_001369726.1:p.Pro1083Leu
NM_001382798.1:c.3191C>T	NP_001369727.1:p.Pro1064Leu
NM_001382799.1:c.3167C>T	NP_001369728.1:p.Pro1056Leu
NM_001382800.1:c.3161C>T	NP_001369729.1:p.Pro1054Leu
NM_001382801.1:c.3143C>T	NP_001369730.1:p.Pro1048Leu
NM_001382802.1:c.3089C>T	NP_001369731.1:p.Pro1030Leu
NM_001382803.1:c.3118-207C>T	NP_001369732.1:n.3118-207C>T
NM_001382804.1:c.2519C>T	NP_001369733.1:p.Pro840Leu
NM_001382805.1:c.2396C>T	NP_001369734.1:p.Pro799Leu
NM_001382806.1:c.2309C>T	NP_001369735.1:p.Pro770Leu
NM_004448.4:c.3347C>T MANE Select	NP_004439.2:p.Pro1116Leu
NR_110535.2:n.3585C>T