Canonical Allele Identifier: CA399303245

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37881066C>A (hg19) ; chr17:g.39724813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724813C>A , CM000679.2:g.39724813C>A	GRCh38
NC_000017.10:g.37881066C>A , CM000679.1:g.37881066C>A	GRCh37
NC_000017.9:g.35134592C>A	NCBI36
NG_007503.1:g.41674C>A , LRG_724:g.41674C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2395C>A MANE Select	ENSP00000269571.4:p.Gln799Lys
ENST00000269571.9:c.2395C>A	ENSP00000269571.4:p.Gln799Lys
ENST00000406381.6:c.2305C>A	ENSP00000385185.2:p.Gln769Lys
ENST00000445658.6:c.1567C>A	ENSP00000404047.2:p.Gln523Lys
ENST00000541774.5:c.2350C>A	ENSP00000446466.1:p.Gln784Lys
ENST00000578373.5:c.*2185C>A	ENSP00000463427.1:n.*2185C>A
ENST00000580074.1:c.501C>A
ENST00000583038.5:n.3529C>A
ENST00000584450.5:c.2395C>A	ENSP00000463714.1:p.Gln799Lys
ENST00000584601.5:c.2305C>A	ENSP00000462438.1:p.Gln769Lys
NM_001005862.2:c.2305C>A , LRG_724t1:c.2305C>A	NP_001005862.1:p.Gln769Lys
NM_001289936.1:c.2350C>A , LRG_724t4:c.2350C>A	NP_001276865.1:p.Gln784Lys
NM_001289937.1:c.2395C>A	NP_001276866.1:p.Gln799Lys
NM_004448.3:c.2395C>A , LRG_724t2:c.2395C>A	NP_004439.2:p.Gln799Lys
NR_110535.1:n.2719C>A
XM_024450641.1:c.2533C>A	XP_024306409.1:p.Gln845Lys
XM_024450642.1:c.2488C>A	XP_024306410.1:p.Gln830Lys
XM_024450643.1:c.2443C>A	XP_024306411.1:p.Gln815Lys
NM_001005862.3:c.2305C>A	NP_001005862.1:p.Gln769Lys
NM_001289936.2:c.2350C>A	NP_001276865.1:p.Gln784Lys
NM_001289937.2:c.2395C>A	NP_001276866.1:p.Gln799Lys
NM_001382782.1:c.2305C>A	NP_001369711.1:p.Gln769Lys
NM_001382783.1:c.2305C>A	NP_001369712.1:p.Gln769Lys
NM_001382784.1:c.2512C>A	NP_001369713.1:p.Gln838Lys
NM_001382785.1:c.2497C>A	NP_001369714.1:p.Gln833Lys
NM_001382786.1:c.2476C>A	NP_001369715.1:p.Gln826Lys
NM_001382787.1:c.2470C>A	NP_001369716.1:p.Gln824Lys
NM_001382788.1:c.2425C>A	NP_001369717.1:p.Gln809Lys
NM_001382789.1:c.2416C>A	NP_001369718.1:p.Gln806Lys
NM_001382790.1:c.2392C>A	NP_001369719.1:p.Gln798Lys
NM_001382791.1:c.2386C>A	NP_001369720.1:p.Gln796Lys
NM_001382792.1:c.2359C>A	NP_001369721.1:p.Gln787Lys
NM_001382793.1:c.2353C>A	NP_001369722.1:p.Gln785Lys
NM_001382794.1:c.2353C>A	NP_001369723.1:p.Gln785Lys
NM_001382795.1:c.2347C>A	NP_001369724.1:p.Gln783Lys
NM_001382796.1:c.2395C>A	NP_001369725.1:p.Gln799Lys
NM_001382797.1:c.2296C>A	NP_001369726.1:p.Gln766Lys
NM_001382798.1:c.2395C>A	NP_001369727.1:p.Gln799Lys
NM_001382799.1:c.2215C>A	NP_001369728.1:p.Gln739Lys
NM_001382800.1:c.2308-236C>A	NP_001369729.1:n.2308-236C>A
NM_001382801.1:c.2347C>A	NP_001369730.1:p.Gln783Lys
NM_001382802.1:c.2137C>A	NP_001369731.1:p.Gln713Lys
NM_001382803.1:c.2353C>A	NP_001369732.1:p.Gln785Lys
NM_001382804.1:c.1567C>A	NP_001369733.1:p.Gln523Lys
NM_001382805.1:c.2208+1153C>A	NP_001369734.1:n.2208+1153C>A
NM_001382806.1:c.1357C>A	NP_001369735.1:p.Gln453Lys
NM_004448.4:c.2395C>A MANE Select	NP_004439.2:p.Gln799Lys
NR_110535.2:n.2633C>A