Canonical Allele Identifier: CA399304719

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37881389A>C (hg19) ; chr17:g.39725136A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725136A>C , CM000679.2:g.39725136A>C	GRCh38
NC_000017.10:g.37881389A>C , CM000679.1:g.37881389A>C	GRCh37
NC_000017.9:g.35134915A>C	NCBI36
NG_007503.1:g.41997A>C , LRG_724:g.41997A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2581A>C MANE Select	ENSP00000269571.4:p.Ile861Leu
ENST00000269571.9:c.2581A>C	ENSP00000269571.4:p.Ile861Leu
ENST00000406381.6:c.2491A>C	ENSP00000385185.2:p.Ile831Leu
ENST00000445658.6:c.1753A>C	ENSP00000404047.2:p.Ile585Leu
ENST00000541774.5:c.2536A>C	ENSP00000446466.1:p.Ile846Leu
ENST00000578373.5:c.*2371A>C	ENSP00000463427.1:n.*2371A>C
ENST00000580074.1:c.687A>C
ENST00000583038.5:n.3715A>C
ENST00000584450.5:c.2581A>C	ENSP00000463714.1:p.Ile861Leu
ENST00000584601.5:c.2491A>C	ENSP00000462438.1:p.Ile831Leu
NM_001005862.2:c.2491A>C , LRG_724t1:c.2491A>C	NP_001005862.1:p.Ile831Leu
NM_001289936.1:c.2536A>C , LRG_724t4:c.2536A>C	NP_001276865.1:p.Ile846Leu
NM_001289937.1:c.2581A>C	NP_001276866.1:p.Ile861Leu
NM_004448.3:c.2581A>C , LRG_724t2:c.2581A>C	NP_004439.2:p.Ile861Leu
NR_110535.1:n.2905A>C
XM_024450641.1:c.2719A>C	XP_024306409.1:p.Ile907Leu
XM_024450642.1:c.2674A>C	XP_024306410.1:p.Ile892Leu
XM_024450643.1:c.2629A>C	XP_024306411.1:p.Ile877Leu
NM_001005862.3:c.2491A>C	NP_001005862.1:p.Ile831Leu
NM_001289936.2:c.2536A>C	NP_001276865.1:p.Ile846Leu
NM_001289937.2:c.2581A>C	NP_001276866.1:p.Ile861Leu
NM_001382782.1:c.2491A>C	NP_001369711.1:p.Ile831Leu
NM_001382783.1:c.2491A>C	NP_001369712.1:p.Ile831Leu
NM_001382784.1:c.2698A>C	NP_001369713.1:p.Ile900Leu
NM_001382785.1:c.2683A>C	NP_001369714.1:p.Ile895Leu
NM_001382786.1:c.2662A>C	NP_001369715.1:p.Ile888Leu
NM_001382787.1:c.2656A>C	NP_001369716.1:p.Ile886Leu
NM_001382788.1:c.2611A>C	NP_001369717.1:p.Ile871Leu
NM_001382789.1:c.2602A>C	NP_001369718.1:p.Ile868Leu
NM_001382790.1:c.2578A>C	NP_001369719.1:p.Ile860Leu
NM_001382791.1:c.2572A>C	NP_001369720.1:p.Ile858Leu
NM_001382792.1:c.2545A>C	NP_001369721.1:p.Ile849Leu
NM_001382793.1:c.2539A>C	NP_001369722.1:p.Ile847Leu
NM_001382794.1:c.2539A>C	NP_001369723.1:p.Ile847Leu
NM_001382795.1:c.2533A>C	NP_001369724.1:p.Ile845Leu
NM_001382796.1:c.2581A>C	NP_001369725.1:p.Ile861Leu
NM_001382797.1:c.2482A>C	NP_001369726.1:p.Ile828Leu
NM_001382798.1:c.2494-191A>C	NP_001369727.1:n.2494-191A>C
NM_001382799.1:c.2401A>C	NP_001369728.1:p.Ile801Leu
NM_001382800.1:c.2395A>C	NP_001369729.1:p.Ile799Leu
NM_001382801.1:c.2446-191A>C	NP_001369730.1:n.2446-191A>C
NM_001382802.1:c.2323A>C	NP_001369731.1:p.Ile775Leu
NM_001382803.1:c.2539A>C	NP_001369732.1:p.Ile847Leu
NM_001382804.1:c.1753A>C	NP_001369733.1:p.Ile585Leu
NM_001382805.1:c.2208+1476A>C	NP_001369734.1:n.2208+1476A>C
NM_001382806.1:c.1543A>C	NP_001369735.1:p.Ile515Leu
NM_004448.4:c.2581A>C MANE Select	NP_004439.2:p.Ile861Leu
NR_110535.2:n.2819A>C