Canonical Allele Identifier: CA399304395

Gene: ERBB2

Linked Data

• dbSNP Id: rs1344653128
• gnomAD v2: 17-37881345-T-G
• gnomAD v4: 17-39725092-T-G
• MyVariant Identifiers: chr17:g.37881345T>G (hg19) ; chr17:g.39725092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725092T>G , CM000679.2:g.39725092T>G	GRCh38
NC_000017.10:g.37881345T>G , CM000679.1:g.37881345T>G	GRCh37
NC_000017.9:g.35134871T>G	NCBI36
NG_007503.1:g.41953T>G , LRG_724:g.41953T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2537T>G MANE Select	ENSP00000269571.4:p.Leu846Trp
ENST00000269571.9:c.2537T>G	ENSP00000269571.4:p.Leu846Trp
ENST00000406381.6:c.2447T>G	ENSP00000385185.2:p.Leu816Trp
ENST00000445658.6:c.1709T>G	ENSP00000404047.2:p.Leu570Trp
ENST00000541774.5:c.2492T>G	ENSP00000446466.1:p.Leu831Trp
ENST00000578373.5:c.*2327T>G	ENSP00000463427.1:n.*2327T>G
ENST00000580074.1:c.643T>G
ENST00000583038.5:n.3671T>G
ENST00000584450.5:c.2537T>G	ENSP00000463714.1:p.Leu846Trp
ENST00000584601.5:c.2447T>G	ENSP00000462438.1:p.Leu816Trp
NM_001005862.2:c.2447T>G , LRG_724t1:c.2447T>G	NP_001005862.1:p.Leu816Trp
NM_001289936.1:c.2492T>G , LRG_724t4:c.2492T>G	NP_001276865.1:p.Leu831Trp
NM_001289937.1:c.2537T>G	NP_001276866.1:p.Leu846Trp
NM_004448.3:c.2537T>G , LRG_724t2:c.2537T>G	NP_004439.2:p.Leu846Trp
NR_110535.1:n.2861T>G
XM_024450641.1:c.2675T>G	XP_024306409.1:p.Leu892Trp
XM_024450642.1:c.2630T>G	XP_024306410.1:p.Leu877Trp
XM_024450643.1:c.2585T>G	XP_024306411.1:p.Leu862Trp
NM_001005862.3:c.2447T>G	NP_001005862.1:p.Leu816Trp
NM_001289936.2:c.2492T>G	NP_001276865.1:p.Leu831Trp
NM_001289937.2:c.2537T>G	NP_001276866.1:p.Leu846Trp
NM_001382782.1:c.2447T>G	NP_001369711.1:p.Leu816Trp
NM_001382783.1:c.2447T>G	NP_001369712.1:p.Leu816Trp
NM_001382784.1:c.2654T>G	NP_001369713.1:p.Leu885Trp
NM_001382785.1:c.2639T>G	NP_001369714.1:p.Leu880Trp
NM_001382786.1:c.2618T>G	NP_001369715.1:p.Leu873Trp
NM_001382787.1:c.2612T>G	NP_001369716.1:p.Leu871Trp
NM_001382788.1:c.2567T>G	NP_001369717.1:p.Leu856Trp
NM_001382789.1:c.2558T>G	NP_001369718.1:p.Leu853Trp
NM_001382790.1:c.2534T>G	NP_001369719.1:p.Leu845Trp
NM_001382791.1:c.2528T>G	NP_001369720.1:p.Leu843Trp
NM_001382792.1:c.2501T>G	NP_001369721.1:p.Leu834Trp
NM_001382793.1:c.2495T>G	NP_001369722.1:p.Leu832Trp
NM_001382794.1:c.2495T>G	NP_001369723.1:p.Leu832Trp
NM_001382795.1:c.2489T>G	NP_001369724.1:p.Leu830Trp
NM_001382796.1:c.2537T>G	NP_001369725.1:p.Leu846Trp
NM_001382797.1:c.2438T>G	NP_001369726.1:p.Leu813Trp
NM_001382798.1:c.2493+181T>G	NP_001369727.1:n.2493+181T>G
NM_001382799.1:c.2357T>G	NP_001369728.1:p.Leu786Trp
NM_001382800.1:c.2351T>G	NP_001369729.1:p.Leu784Trp
NM_001382801.1:c.2445+181T>G	NP_001369730.1:n.2445+181T>G
NM_001382802.1:c.2279T>G	NP_001369731.1:p.Leu760Trp
NM_001382803.1:c.2495T>G	NP_001369732.1:p.Leu832Trp
NM_001382804.1:c.1709T>G	NP_001369733.1:p.Leu570Trp
NM_001382805.1:c.2208+1432T>G	NP_001369734.1:n.2208+1432T>G
NM_001382806.1:c.1499T>G	NP_001369735.1:p.Leu500Trp
NM_004448.4:c.2537T>G MANE Select	NP_004439.2:p.Leu846Trp
NR_110535.2:n.2775T>G