Canonical Allele Identifier: CA399303283

Gene: ERBB2

Linked Data

• dbSNP Id: rs1272619178
• gnomAD v2: 17-37881070-T-G
• gnomAD v4: 17-39724817-T-G
• MyVariant Identifiers: chr17:g.37881070T>G (hg19) ; chr17:g.39724817T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724817T>G , CM000679.2:g.39724817T>G	GRCh38
NC_000017.10:g.37881070T>G , CM000679.1:g.37881070T>G	GRCh37
NC_000017.9:g.35134596T>G	NCBI36
NG_007503.1:g.41678T>G , LRG_724:g.41678T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2399T>G MANE Select	ENSP00000269571.4:p.Leu800Arg
ENST00000269571.9:c.2399T>G	ENSP00000269571.4:p.Leu800Arg
ENST00000406381.6:c.2309T>G	ENSP00000385185.2:p.Leu770Arg
ENST00000445658.6:c.1571T>G	ENSP00000404047.2:p.Leu524Arg
ENST00000541774.5:c.2354T>G	ENSP00000446466.1:p.Leu785Arg
ENST00000578373.5:c.*2189T>G	ENSP00000463427.1:n.*2189T>G
ENST00000580074.1:c.505T>G
ENST00000583038.5:n.3533T>G
ENST00000584450.5:c.2399T>G	ENSP00000463714.1:p.Leu800Arg
ENST00000584601.5:c.2309T>G	ENSP00000462438.1:p.Leu770Arg
NM_001005862.2:c.2309T>G , LRG_724t1:c.2309T>G	NP_001005862.1:p.Leu770Arg
NM_001289936.1:c.2354T>G , LRG_724t4:c.2354T>G	NP_001276865.1:p.Leu785Arg
NM_001289937.1:c.2399T>G	NP_001276866.1:p.Leu800Arg
NM_004448.3:c.2399T>G , LRG_724t2:c.2399T>G	NP_004439.2:p.Leu800Arg
NR_110535.1:n.2723T>G
XM_024450641.1:c.2537T>G	XP_024306409.1:p.Leu846Arg
XM_024450642.1:c.2492T>G	XP_024306410.1:p.Leu831Arg
XM_024450643.1:c.2447T>G	XP_024306411.1:p.Leu816Arg
NM_001005862.3:c.2309T>G	NP_001005862.1:p.Leu770Arg
NM_001289936.2:c.2354T>G	NP_001276865.1:p.Leu785Arg
NM_001289937.2:c.2399T>G	NP_001276866.1:p.Leu800Arg
NM_001382782.1:c.2309T>G	NP_001369711.1:p.Leu770Arg
NM_001382783.1:c.2309T>G	NP_001369712.1:p.Leu770Arg
NM_001382784.1:c.2516T>G	NP_001369713.1:p.Leu839Arg
NM_001382785.1:c.2501T>G	NP_001369714.1:p.Leu834Arg
NM_001382786.1:c.2480T>G	NP_001369715.1:p.Leu827Arg
NM_001382787.1:c.2474T>G	NP_001369716.1:p.Leu825Arg
NM_001382788.1:c.2429T>G	NP_001369717.1:p.Leu810Arg
NM_001382789.1:c.2420T>G	NP_001369718.1:p.Leu807Arg
NM_001382790.1:c.2396T>G	NP_001369719.1:p.Leu799Arg
NM_001382791.1:c.2390T>G	NP_001369720.1:p.Leu797Arg
NM_001382792.1:c.2363T>G	NP_001369721.1:p.Leu788Arg
NM_001382793.1:c.2357T>G	NP_001369722.1:p.Leu786Arg
NM_001382794.1:c.2357T>G	NP_001369723.1:p.Leu786Arg
NM_001382795.1:c.2351T>G	NP_001369724.1:p.Leu784Arg
NM_001382796.1:c.2399T>G	NP_001369725.1:p.Leu800Arg
NM_001382797.1:c.2300T>G	NP_001369726.1:p.Leu767Arg
NM_001382798.1:c.2399T>G	NP_001369727.1:p.Leu800Arg
NM_001382799.1:c.2219T>G	NP_001369728.1:p.Leu740Arg
NM_001382800.1:c.2308-232T>G	NP_001369729.1:n.2308-232T>G
NM_001382801.1:c.2351T>G	NP_001369730.1:p.Leu784Arg
NM_001382802.1:c.2141T>G	NP_001369731.1:p.Leu714Arg
NM_001382803.1:c.2357T>G	NP_001369732.1:p.Leu786Arg
NM_001382804.1:c.1571T>G	NP_001369733.1:p.Leu524Arg
NM_001382805.1:c.2208+1157T>G	NP_001369734.1:n.2208+1157T>G
NM_001382806.1:c.1361T>G	NP_001369735.1:p.Leu454Arg
NM_004448.4:c.2399T>G MANE Select	NP_004439.2:p.Leu800Arg
NR_110535.2:n.2637T>G