Canonical Allele Identifier: CA399312799

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143261581
• gnomAD v4: 17-39727544-C-A
• MyVariant Identifiers: chr17:g.37883797C>A (hg19) ; chr17:g.39727544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727544C>A , CM000679.2:g.39727544C>A	GRCh38
NC_000017.10:g.37883797C>A , CM000679.1:g.37883797C>A	GRCh37
NC_000017.9:g.35137323C>A	NCBI36
NG_007503.1:g.44405C>A , LRG_724:g.44405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3409C>A MANE Select	ENSP00000269571.4:p.Pro1137Thr
ENST00000269571.9:c.3409C>A	ENSP00000269571.4:p.Pro1137Thr
ENST00000406381.6:c.3319C>A	ENSP00000385185.2:p.Pro1107Thr
ENST00000445658.6:c.2581C>A	ENSP00000404047.2:p.Pro861Thr
ENST00000541774.5:c.3364C>A	ENSP00000446466.1:p.Pro1122Thr
ENST00000578373.5:c.*3199C>A	ENSP00000463427.1:n.*3199C>A
ENST00000584450.5:c.3160-145C>A	ENSP00000463714.1:n.3160-145C>A
ENST00000584601.5:c.3319C>A	ENSP00000462438.1:p.Pro1107Thr
NM_001005862.2:c.3319C>A , LRG_724t1:c.3319C>A	NP_001005862.1:p.Pro1107Thr
NM_001289936.1:c.3364C>A , LRG_724t4:c.3364C>A	NP_001276865.1:p.Pro1122Thr
NM_001289937.1:c.3160-145C>A	NP_001276866.1:n.3160-145C>A
NM_004448.3:c.3409C>A , LRG_724t2:c.3409C>A	NP_004439.2:p.Pro1137Thr
NR_110535.1:n.3733C>A
XM_024450641.1:c.3547C>A	XP_024306409.1:p.Pro1183Thr
XM_024450642.1:c.3502C>A	XP_024306410.1:p.Pro1168Thr
XM_024450643.1:c.3457C>A	XP_024306411.1:p.Pro1153Thr
NM_001005862.3:c.3319C>A	NP_001005862.1:p.Pro1107Thr
NM_001289936.2:c.3364C>A	NP_001276865.1:p.Pro1122Thr
NM_001289937.2:c.3160-145C>A	NP_001276866.1:n.3160-145C>A
NM_001382782.1:c.3319C>A	NP_001369711.1:p.Pro1107Thr
NM_001382783.1:c.3319C>A	NP_001369712.1:p.Pro1107Thr
NM_001382784.1:c.3526C>A	NP_001369713.1:p.Pro1176Thr
NM_001382785.1:c.3511C>A	NP_001369714.1:p.Pro1171Thr
NM_001382786.1:c.3490C>A	NP_001369715.1:p.Pro1164Thr
NM_001382787.1:c.3484C>A	NP_001369716.1:p.Pro1162Thr
NM_001382788.1:c.3439C>A	NP_001369717.1:p.Pro1147Thr
NM_001382789.1:c.3430C>A	NP_001369718.1:p.Pro1144Thr
NM_001382790.1:c.3406C>A	NP_001369719.1:p.Pro1136Thr
NM_001382791.1:c.3400C>A	NP_001369720.1:p.Pro1134Thr
NM_001382792.1:c.3373C>A	NP_001369721.1:p.Pro1125Thr
NM_001382793.1:c.3367C>A	NP_001369722.1:p.Pro1123Thr
NM_001382794.1:c.3367C>A	NP_001369723.1:p.Pro1123Thr
NM_001382795.1:c.3361C>A	NP_001369724.1:p.Pro1121Thr
NM_001382796.1:c.3322C>A	NP_001369725.1:p.Pro1108Thr
NM_001382797.1:c.3310C>A	NP_001369726.1:p.Pro1104Thr
NM_001382798.1:c.3253C>A	NP_001369727.1:p.Pro1085Thr
NM_001382799.1:c.3229C>A	NP_001369728.1:p.Pro1077Thr
NM_001382800.1:c.3223C>A	NP_001369729.1:p.Pro1075Thr
NM_001382801.1:c.3205C>A	NP_001369730.1:p.Pro1069Thr
NM_001382802.1:c.3151C>A	NP_001369731.1:p.Pro1051Thr
NM_001382803.1:c.3118-145C>A	NP_001369732.1:n.3118-145C>A
NM_001382804.1:c.2581C>A	NP_001369733.1:p.Pro861Thr
NM_001382805.1:c.2458C>A	NP_001369734.1:p.Pro820Thr
NM_001382806.1:c.2371C>A	NP_001369735.1:p.Pro791Thr
NM_004448.4:c.3409C>A MANE Select	NP_004439.2:p.Pro1137Thr
NR_110535.2:n.3647C>A