Canonical Allele Identifier: CA399304398

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145863770
• COSMIC: COSM6342434 ; COSM6342435
• MyVariant Identifiers: chr17:g.37881346G>T (hg19) ; chr17:g.39725093G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725093G>T , CM000679.2:g.39725093G>T	GRCh38
NC_000017.10:g.37881346G>T , CM000679.1:g.37881346G>T	GRCh37
NC_000017.9:g.35134872G>T	NCBI36
NG_007503.1:g.41954G>T , LRG_724:g.41954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2538G>T MANE Select	ENSP00000269571.4:p.Leu846Phe
ENST00000269571.9:c.2538G>T	ENSP00000269571.4:p.Leu846Phe
ENST00000406381.6:c.2448G>T	ENSP00000385185.2:p.Leu816Phe
ENST00000445658.6:c.1710G>T	ENSP00000404047.2:p.Leu570Phe
ENST00000541774.5:c.2493G>T	ENSP00000446466.1:p.Leu831Phe
ENST00000578373.5:c.*2328G>T	ENSP00000463427.1:n.*2328G>T
ENST00000580074.1:c.644G>T
ENST00000583038.5:n.3672G>T
ENST00000584450.5:c.2538G>T	ENSP00000463714.1:p.Leu846Phe
ENST00000584601.5:c.2448G>T	ENSP00000462438.1:p.Leu816Phe
NM_001005862.2:c.2448G>T , LRG_724t1:c.2448G>T	NP_001005862.1:p.Leu816Phe
NM_001289936.1:c.2493G>T , LRG_724t4:c.2493G>T	NP_001276865.1:p.Leu831Phe
NM_001289937.1:c.2538G>T	NP_001276866.1:p.Leu846Phe
NM_004448.3:c.2538G>T , LRG_724t2:c.2538G>T	NP_004439.2:p.Leu846Phe
NR_110535.1:n.2862G>T
XM_024450641.1:c.2676G>T	XP_024306409.1:p.Leu892Phe
XM_024450642.1:c.2631G>T	XP_024306410.1:p.Leu877Phe
XM_024450643.1:c.2586G>T	XP_024306411.1:p.Leu862Phe
NM_001005862.3:c.2448G>T	NP_001005862.1:p.Leu816Phe
NM_001289936.2:c.2493G>T	NP_001276865.1:p.Leu831Phe
NM_001289937.2:c.2538G>T	NP_001276866.1:p.Leu846Phe
NM_001382782.1:c.2448G>T	NP_001369711.1:p.Leu816Phe
NM_001382783.1:c.2448G>T	NP_001369712.1:p.Leu816Phe
NM_001382784.1:c.2655G>T	NP_001369713.1:p.Leu885Phe
NM_001382785.1:c.2640G>T	NP_001369714.1:p.Leu880Phe
NM_001382786.1:c.2619G>T	NP_001369715.1:p.Leu873Phe
NM_001382787.1:c.2613G>T	NP_001369716.1:p.Leu871Phe
NM_001382788.1:c.2568G>T	NP_001369717.1:p.Leu856Phe
NM_001382789.1:c.2559G>T	NP_001369718.1:p.Leu853Phe
NM_001382790.1:c.2535G>T	NP_001369719.1:p.Leu845Phe
NM_001382791.1:c.2529G>T	NP_001369720.1:p.Leu843Phe
NM_001382792.1:c.2502G>T	NP_001369721.1:p.Leu834Phe
NM_001382793.1:c.2496G>T	NP_001369722.1:p.Leu832Phe
NM_001382794.1:c.2496G>T	NP_001369723.1:p.Leu832Phe
NM_001382795.1:c.2490G>T	NP_001369724.1:p.Leu830Phe
NM_001382796.1:c.2538G>T	NP_001369725.1:p.Leu846Phe
NM_001382797.1:c.2439G>T	NP_001369726.1:p.Leu813Phe
NM_001382798.1:c.2493+182G>T	NP_001369727.1:n.2493+182G>T
NM_001382799.1:c.2358G>T	NP_001369728.1:p.Leu786Phe
NM_001382800.1:c.2352G>T	NP_001369729.1:p.Leu784Phe
NM_001382801.1:c.2445+182G>T	NP_001369730.1:n.2445+182G>T
NM_001382802.1:c.2280G>T	NP_001369731.1:p.Leu760Phe
NM_001382803.1:c.2496G>T	NP_001369732.1:p.Leu832Phe
NM_001382804.1:c.1710G>T	NP_001369733.1:p.Leu570Phe
NM_001382805.1:c.2208+1433G>T	NP_001369734.1:n.2208+1433G>T
NM_001382806.1:c.1500G>T	NP_001369735.1:p.Leu500Phe
NM_004448.4:c.2538G>T MANE Select	NP_004439.2:p.Leu846Phe
NR_110535.2:n.2776G>T