Canonical Allele Identifier: CA399304123

Gene: ERBB2

Linked Data

• dbSNP Id: rs1184294117
• gnomAD v2: 17-37881315-T-G
• gnomAD v4: 17-39725062-T-G
• MyVariant Identifiers: chr17:g.37881315T>G (hg19) ; chr17:g.39725062T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725062T>G , CM000679.2:g.39725062T>G	GRCh38
NC_000017.10:g.37881315T>G , CM000679.1:g.37881315T>G	GRCh37
NC_000017.9:g.35134841T>G	NCBI36
NG_007503.1:g.41923T>G , LRG_724:g.41923T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2507T>G MANE Select	ENSP00000269571.4:p.Leu836Arg
ENST00000269571.9:c.2507T>G	ENSP00000269571.4:p.Leu836Arg
ENST00000406381.6:c.2417T>G	ENSP00000385185.2:p.Leu806Arg
ENST00000445658.6:c.1679T>G	ENSP00000404047.2:p.Leu560Arg
ENST00000541774.5:c.2462T>G	ENSP00000446466.1:p.Leu821Arg
ENST00000578373.5:c.*2297T>G	ENSP00000463427.1:n.*2297T>G
ENST00000580074.1:c.613T>G
ENST00000583038.5:n.3641T>G
ENST00000584450.5:c.2507T>G	ENSP00000463714.1:p.Leu836Arg
ENST00000584601.5:c.2417T>G	ENSP00000462438.1:p.Leu806Arg
NM_001005862.2:c.2417T>G , LRG_724t1:c.2417T>G	NP_001005862.1:p.Leu806Arg
NM_001289936.1:c.2462T>G , LRG_724t4:c.2462T>G	NP_001276865.1:p.Leu821Arg
NM_001289937.1:c.2507T>G	NP_001276866.1:p.Leu836Arg
NM_004448.3:c.2507T>G , LRG_724t2:c.2507T>G	NP_004439.2:p.Leu836Arg
NR_110535.1:n.2831T>G
XM_024450641.1:c.2645T>G	XP_024306409.1:p.Leu882Arg
XM_024450642.1:c.2600T>G	XP_024306410.1:p.Leu867Arg
XM_024450643.1:c.2555T>G	XP_024306411.1:p.Leu852Arg
NM_001005862.3:c.2417T>G	NP_001005862.1:p.Leu806Arg
NM_001289936.2:c.2462T>G	NP_001276865.1:p.Leu821Arg
NM_001289937.2:c.2507T>G	NP_001276866.1:p.Leu836Arg
NM_001382782.1:c.2417T>G	NP_001369711.1:p.Leu806Arg
NM_001382783.1:c.2417T>G	NP_001369712.1:p.Leu806Arg
NM_001382784.1:c.2624T>G	NP_001369713.1:p.Leu875Arg
NM_001382785.1:c.2609T>G	NP_001369714.1:p.Leu870Arg
NM_001382786.1:c.2588T>G	NP_001369715.1:p.Leu863Arg
NM_001382787.1:c.2582T>G	NP_001369716.1:p.Leu861Arg
NM_001382788.1:c.2537T>G	NP_001369717.1:p.Leu846Arg
NM_001382789.1:c.2528T>G	NP_001369718.1:p.Leu843Arg
NM_001382790.1:c.2504T>G	NP_001369719.1:p.Leu835Arg
NM_001382791.1:c.2498T>G	NP_001369720.1:p.Leu833Arg
NM_001382792.1:c.2471T>G	NP_001369721.1:p.Leu824Arg
NM_001382793.1:c.2465T>G	NP_001369722.1:p.Leu822Arg
NM_001382794.1:c.2465T>G	NP_001369723.1:p.Leu822Arg
NM_001382795.1:c.2459T>G	NP_001369724.1:p.Leu820Arg
NM_001382796.1:c.2507T>G	NP_001369725.1:p.Leu836Arg
NM_001382797.1:c.2408T>G	NP_001369726.1:p.Leu803Arg
NM_001382798.1:c.2493+151T>G	NP_001369727.1:n.2493+151T>G
NM_001382799.1:c.2327T>G	NP_001369728.1:p.Leu776Arg
NM_001382800.1:c.2321T>G	NP_001369729.1:p.Leu774Arg
NM_001382801.1:c.2445+151T>G	NP_001369730.1:n.2445+151T>G
NM_001382802.1:c.2249T>G	NP_001369731.1:p.Leu750Arg
NM_001382803.1:c.2465T>G	NP_001369732.1:p.Leu822Arg
NM_001382804.1:c.1679T>G	NP_001369733.1:p.Leu560Arg
NM_001382805.1:c.2208+1402T>G	NP_001369734.1:n.2208+1402T>G
NM_001382806.1:c.1469T>G	NP_001369735.1:p.Leu490Arg
NM_004448.4:c.2507T>G MANE Select	NP_004439.2:p.Leu836Arg
NR_110535.2:n.2745T>G