Canonical Allele Identifier: CA399304421

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145864015
• gnomAD v4: 17-39725098-C-G
• MyVariant Identifiers: chr17:g.37881351C>G (hg19) ; chr17:g.39725098C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725098C>G , CM000679.2:g.39725098C>G	GRCh38
NC_000017.10:g.37881351C>G , CM000679.1:g.37881351C>G	GRCh37
NC_000017.9:g.35134877C>G	NCBI36
NG_007503.1:g.41959C>G , LRG_724:g.41959C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2543C>G MANE Select	ENSP00000269571.4:p.Ala848Gly
ENST00000269571.9:c.2543C>G	ENSP00000269571.4:p.Ala848Gly
ENST00000406381.6:c.2453C>G	ENSP00000385185.2:p.Ala818Gly
ENST00000445658.6:c.1715C>G	ENSP00000404047.2:p.Ala572Gly
ENST00000541774.5:c.2498C>G	ENSP00000446466.1:p.Ala833Gly
ENST00000578373.5:c.*2333C>G	ENSP00000463427.1:n.*2333C>G
ENST00000580074.1:c.649C>G
ENST00000583038.5:n.3677C>G
ENST00000584450.5:c.2543C>G	ENSP00000463714.1:p.Ala848Gly
ENST00000584601.5:c.2453C>G	ENSP00000462438.1:p.Ala818Gly
NM_001005862.2:c.2453C>G , LRG_724t1:c.2453C>G	NP_001005862.1:p.Ala818Gly
NM_001289936.1:c.2498C>G , LRG_724t4:c.2498C>G	NP_001276865.1:p.Ala833Gly
NM_001289937.1:c.2543C>G	NP_001276866.1:p.Ala848Gly
NM_004448.3:c.2543C>G , LRG_724t2:c.2543C>G	NP_004439.2:p.Ala848Gly
NR_110535.1:n.2867C>G
XM_024450641.1:c.2681C>G	XP_024306409.1:p.Ala894Gly
XM_024450642.1:c.2636C>G	XP_024306410.1:p.Ala879Gly
XM_024450643.1:c.2591C>G	XP_024306411.1:p.Ala864Gly
NM_001005862.3:c.2453C>G	NP_001005862.1:p.Ala818Gly
NM_001289936.2:c.2498C>G	NP_001276865.1:p.Ala833Gly
NM_001289937.2:c.2543C>G	NP_001276866.1:p.Ala848Gly
NM_001382782.1:c.2453C>G	NP_001369711.1:p.Ala818Gly
NM_001382783.1:c.2453C>G	NP_001369712.1:p.Ala818Gly
NM_001382784.1:c.2660C>G	NP_001369713.1:p.Ala887Gly
NM_001382785.1:c.2645C>G	NP_001369714.1:p.Ala882Gly
NM_001382786.1:c.2624C>G	NP_001369715.1:p.Ala875Gly
NM_001382787.1:c.2618C>G	NP_001369716.1:p.Ala873Gly
NM_001382788.1:c.2573C>G	NP_001369717.1:p.Ala858Gly
NM_001382789.1:c.2564C>G	NP_001369718.1:p.Ala855Gly
NM_001382790.1:c.2540C>G	NP_001369719.1:p.Ala847Gly
NM_001382791.1:c.2534C>G	NP_001369720.1:p.Ala845Gly
NM_001382792.1:c.2507C>G	NP_001369721.1:p.Ala836Gly
NM_001382793.1:c.2501C>G	NP_001369722.1:p.Ala834Gly
NM_001382794.1:c.2501C>G	NP_001369723.1:p.Ala834Gly
NM_001382795.1:c.2495C>G	NP_001369724.1:p.Ala832Gly
NM_001382796.1:c.2543C>G	NP_001369725.1:p.Ala848Gly
NM_001382797.1:c.2444C>G	NP_001369726.1:p.Ala815Gly
NM_001382798.1:c.2493+187C>G	NP_001369727.1:n.2493+187C>G
NM_001382799.1:c.2363C>G	NP_001369728.1:p.Ala788Gly
NM_001382800.1:c.2357C>G	NP_001369729.1:p.Ala786Gly
NM_001382801.1:c.2445+187C>G	NP_001369730.1:n.2445+187C>G
NM_001382802.1:c.2285C>G	NP_001369731.1:p.Ala762Gly
NM_001382803.1:c.2501C>G	NP_001369732.1:p.Ala834Gly
NM_001382804.1:c.1715C>G	NP_001369733.1:p.Ala572Gly
NM_001382805.1:c.2208+1438C>G	NP_001369734.1:n.2208+1438C>G
NM_001382806.1:c.1505C>G	NP_001369735.1:p.Ala502Gly
NM_004448.4:c.2543C>G MANE Select	NP_004439.2:p.Ala848Gly
NR_110535.2:n.2781C>G