Canonical Allele Identifier: CA399304078

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145862133
• gnomAD v4: 17-39725053-T-G
• MyVariant Identifiers: chr17:g.37881306T>G (hg19) ; chr17:g.39725053T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725053T>G , CM000679.2:g.39725053T>G	GRCh38
NC_000017.10:g.37881306T>G , CM000679.1:g.37881306T>G	GRCh37
NC_000017.9:g.35134832T>G	NCBI36
NG_007503.1:g.41914T>G , LRG_724:g.41914T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2498T>G MANE Select	ENSP00000269571.4:p.Met833Arg
ENST00000269571.9:c.2498T>G	ENSP00000269571.4:p.Met833Arg
ENST00000406381.6:c.2408T>G	ENSP00000385185.2:p.Met803Arg
ENST00000445658.6:c.1670T>G	ENSP00000404047.2:p.Met557Arg
ENST00000541774.5:c.2453T>G	ENSP00000446466.1:p.Met818Arg
ENST00000578373.5:c.*2288T>G	ENSP00000463427.1:n.*2288T>G
ENST00000580074.1:c.604T>G
ENST00000583038.5:n.3632T>G
ENST00000584450.5:c.2498T>G	ENSP00000463714.1:p.Met833Arg
ENST00000584601.5:c.2408T>G	ENSP00000462438.1:p.Met803Arg
NM_001005862.2:c.2408T>G , LRG_724t1:c.2408T>G	NP_001005862.1:p.Met803Arg
NM_001289936.1:c.2453T>G , LRG_724t4:c.2453T>G	NP_001276865.1:p.Met818Arg
NM_001289937.1:c.2498T>G	NP_001276866.1:p.Met833Arg
NM_004448.3:c.2498T>G , LRG_724t2:c.2498T>G	NP_004439.2:p.Met833Arg
NR_110535.1:n.2822T>G
XM_024450641.1:c.2636T>G	XP_024306409.1:p.Met879Arg
XM_024450642.1:c.2591T>G	XP_024306410.1:p.Met864Arg
XM_024450643.1:c.2546T>G	XP_024306411.1:p.Met849Arg
NM_001005862.3:c.2408T>G	NP_001005862.1:p.Met803Arg
NM_001289936.2:c.2453T>G	NP_001276865.1:p.Met818Arg
NM_001289937.2:c.2498T>G	NP_001276866.1:p.Met833Arg
NM_001382782.1:c.2408T>G	NP_001369711.1:p.Met803Arg
NM_001382783.1:c.2408T>G	NP_001369712.1:p.Met803Arg
NM_001382784.1:c.2615T>G	NP_001369713.1:p.Met872Arg
NM_001382785.1:c.2600T>G	NP_001369714.1:p.Met867Arg
NM_001382786.1:c.2579T>G	NP_001369715.1:p.Met860Arg
NM_001382787.1:c.2573T>G	NP_001369716.1:p.Met858Arg
NM_001382788.1:c.2528T>G	NP_001369717.1:p.Met843Arg
NM_001382789.1:c.2519T>G	NP_001369718.1:p.Met840Arg
NM_001382790.1:c.2495T>G	NP_001369719.1:p.Met832Arg
NM_001382791.1:c.2489T>G	NP_001369720.1:p.Met830Arg
NM_001382792.1:c.2462T>G	NP_001369721.1:p.Met821Arg
NM_001382793.1:c.2456T>G	NP_001369722.1:p.Met819Arg
NM_001382794.1:c.2456T>G	NP_001369723.1:p.Met819Arg
NM_001382795.1:c.2450T>G	NP_001369724.1:p.Met817Arg
NM_001382796.1:c.2498T>G	NP_001369725.1:p.Met833Arg
NM_001382797.1:c.2399T>G	NP_001369726.1:p.Met800Arg
NM_001382798.1:c.2493+142T>G	NP_001369727.1:n.2493+142T>G
NM_001382799.1:c.2318T>G	NP_001369728.1:p.Met773Arg
NM_001382800.1:c.2312T>G	NP_001369729.1:p.Met771Arg
NM_001382801.1:c.2445+142T>G	NP_001369730.1:n.2445+142T>G
NM_001382802.1:c.2240T>G	NP_001369731.1:p.Met747Arg
NM_001382803.1:c.2456T>G	NP_001369732.1:p.Met819Arg
NM_001382804.1:c.1670T>G	NP_001369733.1:p.Met557Arg
NM_001382805.1:c.2208+1393T>G	NP_001369734.1:n.2208+1393T>G
NM_001382806.1:c.1460T>G	NP_001369735.1:p.Met487Arg
NM_004448.4:c.2498T>G MANE Select	NP_004439.2:p.Met833Arg
NR_110535.2:n.2736T>G