Canonical Allele Identifier: CA290440789

Gene: ERBB2

Linked Data

• dbSNP Id: rs764462694
• gnomAD v4: 17-39724995-T-G
• MyVariant Identifiers: chr17:g.37881248T>G (hg19) ; chr17:g.39724995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724995T>G , CM000679.2:g.39724995T>G	GRCh38
NC_000017.10:g.37881248T>G , CM000679.1:g.37881248T>G	GRCh37
NC_000017.9:g.35134774T>G	NCBI36
NG_007503.1:g.41856T>G , LRG_724:g.41856T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2494-54T>G MANE Select	ENSP00000269571.4:n.2494-54T>G
ENST00000269571.9:c.2494-54T>G	ENSP00000269571.4:n.2494-54T>G
ENST00000406381.6:c.2404-54T>G	ENSP00000385185.2:n.2404-54T>G
ENST00000445658.6:c.1666-54T>G	ENSP00000404047.2:n.1666-54T>G
ENST00000541774.5:c.2449-54T>G	ENSP00000446466.1:n.2449-54T>G
ENST00000578373.5:c.*2284-54T>G	ENSP00000463427.1:n.*2284-54T>G
ENST00000580074.1:c.600-54T>G
ENST00000583038.5:n.3628-54T>G
ENST00000584450.5:c.2494-54T>G	ENSP00000463714.1:n.2494-54T>G
ENST00000584601.5:c.2404-54T>G	ENSP00000462438.1:n.2404-54T>G
NM_001005862.2:c.2404-54T>G , LRG_724t1:c.2404-54T>G	NP_001005862.1:n.2404-54T>G
NM_001289936.1:c.2449-54T>G , LRG_724t4:c.2449-54T>G	NP_001276865.1:n.2449-54T>G
NM_001289937.1:c.2494-54T>G	NP_001276866.1:n.2494-54T>G
NM_004448.3:c.2494-54T>G , LRG_724t2:c.2494-54T>G	NP_004439.2:n.2494-54T>G
NR_110535.1:n.2818-54T>G
XM_024450641.1:c.2632-54T>G	XP_024306409.1:n.2632-54T>G
XM_024450642.1:c.2587-54T>G	XP_024306410.1:n.2587-54T>G
XM_024450643.1:c.2542-54T>G	XP_024306411.1:n.2542-54T>G
NM_001005862.3:c.2404-54T>G	NP_001005862.1:n.2404-54T>G
NM_001289936.2:c.2449-54T>G	NP_001276865.1:n.2449-54T>G
NM_001289937.2:c.2494-54T>G	NP_001276866.1:n.2494-54T>G
NM_001382782.1:c.2404-54T>G	NP_001369711.1:n.2404-54T>G
NM_001382783.1:c.2404-54T>G	NP_001369712.1:n.2404-54T>G
NM_001382784.1:c.2611-54T>G	NP_001369713.1:n.2611-54T>G
NM_001382785.1:c.2596-54T>G	NP_001369714.1:n.2596-54T>G
NM_001382786.1:c.2575-54T>G	NP_001369715.1:n.2575-54T>G
NM_001382787.1:c.2569-54T>G	NP_001369716.1:n.2569-54T>G
NM_001382788.1:c.2524-54T>G	NP_001369717.1:n.2524-54T>G
NM_001382789.1:c.2515-54T>G	NP_001369718.1:n.2515-54T>G
NM_001382790.1:c.2491-54T>G	NP_001369719.1:n.2491-54T>G
NM_001382791.1:c.2485-54T>G	NP_001369720.1:n.2485-54T>G
NM_001382792.1:c.2458-54T>G	NP_001369721.1:n.2458-54T>G
NM_001382793.1:c.2452-54T>G	NP_001369722.1:n.2452-54T>G
NM_001382794.1:c.2452-54T>G	NP_001369723.1:n.2452-54T>G
NM_001382795.1:c.2446-54T>G	NP_001369724.1:n.2446-54T>G
NM_001382796.1:c.2494-54T>G	NP_001369725.1:n.2494-54T>G
NM_001382797.1:c.2395-54T>G	NP_001369726.1:n.2395-54T>G
NM_001382798.1:c.2493+84T>G	NP_001369727.1:n.2493+84T>G
NM_001382799.1:c.2314-54T>G	NP_001369728.1:n.2314-54T>G
NM_001382800.1:c.2308-54T>G	NP_001369729.1:n.2308-54T>G
NM_001382801.1:c.2445+84T>G	NP_001369730.1:n.2445+84T>G
NM_001382802.1:c.2236-54T>G	NP_001369731.1:n.2236-54T>G
NM_001382803.1:c.2452-54T>G	NP_001369732.1:n.2452-54T>G
NM_001382804.1:c.1666-54T>G	NP_001369733.1:n.1666-54T>G
NM_001382805.1:c.2208+1335T>G	NP_001369734.1:n.2208+1335T>G
NM_001382806.1:c.1456-54T>G	NP_001369735.1:n.1456-54T>G
NM_004448.4:c.2494-54T>G MANE Select	NP_004439.2:n.2494-54T>G
NR_110535.2:n.2732-54T>G