Canonical Allele Identifier: CA2637621861

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145856624
• gnomAD v4: 17-39724951-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724951C>T , CM000679.2:g.39724951C>T	GRCh38
NC_000017.10:g.37881204C>T , CM000679.1:g.37881204C>T	GRCh37
NC_000017.9:g.35134730C>T	NCBI36
NG_007503.1:g.41812C>T , LRG_724:g.41812C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2493+40C>T MANE Select	ENSP00000269571.4:n.2493+40C>T
ENST00000269571.9:c.2493+40C>T	ENSP00000269571.4:n.2493+40C>T
ENST00000406381.6:c.2403+40C>T	ENSP00000385185.2:n.2403+40C>T
ENST00000445658.6:c.1665+40C>T	ENSP00000404047.2:n.1665+40C>T
ENST00000541774.5:c.2448+40C>T	ENSP00000446466.1:n.2448+40C>T
ENST00000578373.5:c.*2283+40C>T	ENSP00000463427.1:n.*2283+40C>T
ENST00000580074.1:c.599+40C>T
ENST00000583038.5:n.3627+40C>T
ENST00000584450.5:c.2493+40C>T	ENSP00000463714.1:n.2493+40C>T
ENST00000584601.5:c.2403+40C>T	ENSP00000462438.1:n.2403+40C>T
NM_001005862.2:c.2403+40C>T , LRG_724t1:c.2403+40C>T	NP_001005862.1:n.2403+40C>T
NM_001289936.1:c.2448+40C>T , LRG_724t4:c.2448+40C>T	NP_001276865.1:n.2448+40C>T
NM_001289937.1:c.2493+40C>T	NP_001276866.1:n.2493+40C>T
NM_004448.3:c.2493+40C>T , LRG_724t2:c.2493+40C>T	NP_004439.2:n.2493+40C>T
NR_110535.1:n.2817+40C>T
XM_024450641.1:c.2631+40C>T	XP_024306409.1:n.2631+40C>T
XM_024450642.1:c.2586+40C>T	XP_024306410.1:n.2586+40C>T
XM_024450643.1:c.2541+40C>T	XP_024306411.1:n.2541+40C>T
NM_001005862.3:c.2403+40C>T	NP_001005862.1:n.2403+40C>T
NM_001289936.2:c.2448+40C>T	NP_001276865.1:n.2448+40C>T
NM_001289937.2:c.2493+40C>T	NP_001276866.1:n.2493+40C>T
NM_001382782.1:c.2403+40C>T	NP_001369711.1:n.2403+40C>T
NM_001382783.1:c.2403+40C>T	NP_001369712.1:n.2403+40C>T
NM_001382784.1:c.2610+40C>T	NP_001369713.1:n.2610+40C>T
NM_001382785.1:c.2595+40C>T	NP_001369714.1:n.2595+40C>T
NM_001382786.1:c.2574+40C>T	NP_001369715.1:n.2574+40C>T
NM_001382787.1:c.2568+40C>T	NP_001369716.1:n.2568+40C>T
NM_001382788.1:c.2523+40C>T	NP_001369717.1:n.2523+40C>T
NM_001382789.1:c.2514+40C>T	NP_001369718.1:n.2514+40C>T
NM_001382790.1:c.2490+40C>T	NP_001369719.1:n.2490+40C>T
NM_001382791.1:c.2484+40C>T	NP_001369720.1:n.2484+40C>T
NM_001382792.1:c.2457+40C>T	NP_001369721.1:n.2457+40C>T
NM_001382793.1:c.2451+40C>T	NP_001369722.1:n.2451+40C>T
NM_001382794.1:c.2451+40C>T	NP_001369723.1:n.2451+40C>T
NM_001382795.1:c.2445+40C>T	NP_001369724.1:n.2445+40C>T
NM_001382796.1:c.2493+40C>T	NP_001369725.1:n.2493+40C>T
NM_001382797.1:c.2394+40C>T	NP_001369726.1:n.2394+40C>T
NM_001382798.1:c.2493+40C>T	NP_001369727.1:n.2493+40C>T
NM_001382799.1:c.2313+40C>T	NP_001369728.1:n.2313+40C>T
NM_001382800.1:c.2308-98C>T	NP_001369729.1:n.2308-98C>T
NM_001382801.1:c.2445+40C>T	NP_001369730.1:n.2445+40C>T
NM_001382802.1:c.2235+40C>T	NP_001369731.1:n.2235+40C>T
NM_001382803.1:c.2451+40C>T	NP_001369732.1:n.2451+40C>T
NM_001382804.1:c.1665+40C>T	NP_001369733.1:n.1665+40C>T
NM_001382805.1:c.2208+1291C>T	NP_001369734.1:n.2208+1291C>T
NM_001382806.1:c.1455+40C>T	NP_001369735.1:n.1455+40C>T
NM_004448.4:c.2493+40C>T MANE Select	NP_004439.2:n.2493+40C>T
NR_110535.2:n.2731+40C>T