Canonical Allele Identifier: CA290439848

Gene: ERBB2

Linked Data

• dbSNP Id: rs1030798691
• gnomAD v3: 17-39724195-T-C
• gnomAD v4: 17-39724195-T-C
• MyVariant Identifiers: chr17:g.37880448T>C (hg19) ; chr17:g.39724195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724195T>C , CM000679.2:g.39724195T>C	GRCh38
NC_000017.10:g.37880448T>C , CM000679.1:g.37880448T>C	GRCh37
NC_000017.9:g.35133974T>C	NCBI36
NG_007503.1:g.41056T>C , LRG_724:g.41056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2307+185T>C MANE Select	ENSP00000269571.4:n.2307+185T>C
ENST00000269571.9:c.2307+185T>C	ENSP00000269571.4:n.2307+185T>C
ENST00000406381.6:c.2217+185T>C	ENSP00000385185.2:n.2217+185T>C
ENST00000445658.6:c.1479+185T>C	ENSP00000404047.2:n.1479+185T>C
ENST00000541774.5:c.2262+185T>C	ENSP00000446466.1:n.2262+185T>C
ENST00000578373.5:c.*2097+185T>C	ENSP00000463427.1:n.*2097+185T>C
ENST00000580074.1:c.413+185T>C
ENST00000583038.5:n.3441+185T>C
ENST00000584450.5:c.2307+185T>C	ENSP00000463714.1:n.2307+185T>C
ENST00000584601.5:c.2217+185T>C	ENSP00000462438.1:n.2217+185T>C
NM_001005862.2:c.2217+185T>C , LRG_724t1:c.2217+185T>C	NP_001005862.1:n.2217+185T>C
NM_001289936.1:c.2262+185T>C , LRG_724t4:c.2262+185T>C	NP_001276865.1:n.2262+185T>C
NM_001289937.1:c.2307+185T>C	NP_001276866.1:n.2307+185T>C
NM_004448.3:c.2307+185T>C , LRG_724t2:c.2307+185T>C	NP_004439.2:n.2307+185T>C
NR_110535.1:n.2631+185T>C
XM_024450641.1:c.2445+185T>C	XP_024306409.1:n.2445+185T>C
XM_024450642.1:c.2400+185T>C	XP_024306410.1:n.2400+185T>C
XM_024450643.1:c.2355+185T>C	XP_024306411.1:n.2355+185T>C
NM_001005862.3:c.2217+185T>C	NP_001005862.1:n.2217+185T>C
NM_001289936.2:c.2262+185T>C	NP_001276865.1:n.2262+185T>C
NM_001289937.2:c.2307+185T>C	NP_001276866.1:n.2307+185T>C
NM_001382782.1:c.2217+185T>C	NP_001369711.1:n.2217+185T>C
NM_001382783.1:c.2217+185T>C	NP_001369712.1:n.2217+185T>C
NM_001382784.1:c.2424+185T>C	NP_001369713.1:n.2424+185T>C
NM_001382785.1:c.2409+185T>C	NP_001369714.1:n.2409+185T>C
NM_001382786.1:c.2388+185T>C	NP_001369715.1:n.2388+185T>C
NM_001382787.1:c.2382+185T>C	NP_001369716.1:n.2382+185T>C
NM_001382788.1:c.2337+185T>C	NP_001369717.1:n.2337+185T>C
NM_001382789.1:c.2328+185T>C	NP_001369718.1:n.2328+185T>C
NM_001382790.1:c.2304+185T>C	NP_001369719.1:n.2304+185T>C
NM_001382791.1:c.2298+185T>C	NP_001369720.1:n.2298+185T>C
NM_001382792.1:c.2271+185T>C	NP_001369721.1:n.2271+185T>C
NM_001382793.1:c.2265+185T>C	NP_001369722.1:n.2265+185T>C
NM_001382794.1:c.2265+185T>C	NP_001369723.1:n.2265+185T>C
NM_001382795.1:c.2259+185T>C	NP_001369724.1:n.2259+185T>C
NM_001382796.1:c.2307+185T>C	NP_001369725.1:n.2307+185T>C
NM_001382797.1:c.2209-531T>C	NP_001369726.1:n.2209-531T>C
NM_001382798.1:c.2307+185T>C	NP_001369727.1:n.2307+185T>C
NM_001382799.1:c.2127+185T>C	NP_001369728.1:n.2127+185T>C
NM_001382800.1:c.2307+185T>C	NP_001369729.1:n.2307+185T>C
NM_001382801.1:c.2259+185T>C	NP_001369730.1:n.2259+185T>C
NM_001382802.1:c.2049+185T>C	NP_001369731.1:n.2049+185T>C
NM_001382803.1:c.2265+185T>C	NP_001369732.1:n.2265+185T>C
NM_001382804.1:c.1479+185T>C	NP_001369733.1:n.1479+185T>C
NM_001382805.1:c.2208+535T>C	NP_001369734.1:n.2208+535T>C
NM_001382806.1:c.1269+185T>C	NP_001369735.1:n.1269+185T>C
NM_004448.4:c.2307+185T>C MANE Select	NP_004439.2:n.2307+185T>C
NR_110535.2:n.2545+185T>C