Canonical Allele Identifier: CA399312938

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143291840
• gnomAD v4: 17-39727742-C-G
• MyVariant Identifiers: chr17:g.37883995C>G (hg19) ; chr17:g.39727742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727742C>G , CM000679.2:g.39727742C>G	GRCh38
NC_000017.10:g.37883995C>G , CM000679.1:g.37883995C>G	GRCh37
NC_000017.9:g.35137521C>G	NCBI36
NG_007503.1:g.44603C>G , LRG_724:g.44603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3466C>G MANE Select	ENSP00000269571.4:p.Pro1156Ala
ENST00000269571.9:c.3466C>G	ENSP00000269571.4:p.Pro1156Ala
ENST00000406381.6:c.3376C>G	ENSP00000385185.2:p.Pro1126Ala
ENST00000445658.6:c.2638C>G	ENSP00000404047.2:p.Pro880Ala
ENST00000541774.5:c.3421C>G	ENSP00000446466.1:p.Pro1141Ala
ENST00000578373.5:c.*3256C>G	ENSP00000463427.1:n.*3256C>G
ENST00000584450.5:c.*45C>G	ENSP00000463714.1:n.*45C>G
ENST00000584601.5:c.3376C>G	ENSP00000462438.1:p.Pro1126Ala
NM_001005862.2:c.3376C>G , LRG_724t1:c.3376C>G	NP_001005862.1:p.Pro1126Ala
NM_001289936.1:c.3421C>G , LRG_724t4:c.3421C>G	NP_001276865.1:p.Pro1141Ala
NM_001289937.1:c.*45C>G	NP_001276866.1:n.*45C>G
NM_004448.3:c.3466C>G , LRG_724t2:c.3466C>G	NP_004439.2:p.Pro1156Ala
NR_110535.1:n.3790C>G
XM_024450641.1:c.3604C>G	XP_024306409.1:p.Pro1202Ala
XM_024450642.1:c.3559C>G	XP_024306410.1:p.Pro1187Ala
XM_024450643.1:c.3514C>G	XP_024306411.1:p.Pro1172Ala
NM_001005862.3:c.3376C>G	NP_001005862.1:p.Pro1126Ala
NM_001289936.2:c.3421C>G	NP_001276865.1:p.Pro1141Ala
NM_001289937.2:c.*45C>G	NP_001276866.1:n.*45C>G
NM_001382782.1:c.3376C>G	NP_001369711.1:p.Pro1126Ala
NM_001382783.1:c.3376C>G	NP_001369712.1:p.Pro1126Ala
NM_001382784.1:c.3583C>G	NP_001369713.1:p.Pro1195Ala
NM_001382785.1:c.3568C>G	NP_001369714.1:p.Pro1190Ala
NM_001382786.1:c.3547C>G	NP_001369715.1:p.Pro1183Ala
NM_001382787.1:c.3541C>G	NP_001369716.1:p.Pro1181Ala
NM_001382788.1:c.3496C>G	NP_001369717.1:p.Pro1166Ala
NM_001382789.1:c.3487C>G	NP_001369718.1:p.Pro1163Ala
NM_001382790.1:c.3463C>G	NP_001369719.1:p.Pro1155Ala
NM_001382791.1:c.3457C>G	NP_001369720.1:p.Pro1153Ala
NM_001382792.1:c.3430C>G	NP_001369721.1:p.Pro1144Ala
NM_001382793.1:c.3424C>G	NP_001369722.1:p.Pro1142Ala
NM_001382794.1:c.3424C>G	NP_001369723.1:p.Pro1142Ala
NM_001382795.1:c.3418C>G	NP_001369724.1:p.Pro1140Ala
NM_001382796.1:c.3379C>G	NP_001369725.1:p.Pro1127Ala
NM_001382797.1:c.3367C>G	NP_001369726.1:p.Pro1123Ala
NM_001382798.1:c.3310C>G	NP_001369727.1:p.Pro1104Ala
NM_001382799.1:c.3286C>G	NP_001369728.1:p.Pro1096Ala
NM_001382800.1:c.3280C>G	NP_001369729.1:p.Pro1094Ala
NM_001382801.1:c.3262C>G	NP_001369730.1:p.Pro1088Ala
NM_001382802.1:c.3208C>G	NP_001369731.1:p.Pro1070Ala
NM_001382803.1:c.*45C>G	NP_001369732.1:n.*45C>G
NM_001382804.1:c.2638C>G	NP_001369733.1:p.Pro880Ala
NM_001382805.1:c.2515C>G	NP_001369734.1:p.Pro839Ala
NM_001382806.1:c.2428C>G	NP_001369735.1:p.Pro810Ala
NM_004448.4:c.3466C>G MANE Select	NP_004439.2:p.Pro1156Ala
NR_110535.2:n.3704C>G