Canonical Allele Identifier: CA2259227928

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059646286
• gnomAD v3: 17-39724646-G-C
• gnomAD v4: 17-39724646-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724646G>C , CM000679.2:g.39724646G>C	GRCh38
NC_000017.10:g.37880899G>C , CM000679.1:g.37880899G>C	GRCh37
NC_000017.9:g.35134425G>C	NCBI36
NG_007503.1:g.41507G>C , LRG_724:g.41507G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2308-80G>C MANE Select	ENSP00000269571.4:n.2308-80G>C
ENST00000269571.9:c.2308-80G>C	ENSP00000269571.4:n.2308-80G>C
ENST00000406381.6:c.2218-80G>C	ENSP00000385185.2:n.2218-80G>C
ENST00000445658.6:c.1480-80G>C	ENSP00000404047.2:n.1480-80G>C
ENST00000541774.5:c.2263-80G>C	ENSP00000446466.1:n.2263-80G>C
ENST00000578373.5:c.*2098-80G>C	ENSP00000463427.1:n.*2098-80G>C
ENST00000580074.1:c.414-80G>C
ENST00000583038.5:n.3442-80G>C
ENST00000584450.5:c.2308-80G>C	ENSP00000463714.1:n.2308-80G>C
ENST00000584601.5:c.2218-80G>C	ENSP00000462438.1:n.2218-80G>C
NM_001005862.2:c.2218-80G>C , LRG_724t1:c.2218-80G>C	NP_001005862.1:n.2218-80G>C
NM_001289936.1:c.2263-80G>C , LRG_724t4:c.2263-80G>C	NP_001276865.1:n.2263-80G>C
NM_001289937.1:c.2308-80G>C	NP_001276866.1:n.2308-80G>C
NM_004448.3:c.2308-80G>C , LRG_724t2:c.2308-80G>C	NP_004439.2:n.2308-80G>C
NR_110535.1:n.2632-80G>C
XM_024450641.1:c.2446-80G>C	XP_024306409.1:n.2446-80G>C
XM_024450642.1:c.2401-80G>C	XP_024306410.1:n.2401-80G>C
XM_024450643.1:c.2356-80G>C	XP_024306411.1:n.2356-80G>C
NM_001005862.3:c.2218-80G>C	NP_001005862.1:n.2218-80G>C
NM_001289936.2:c.2263-80G>C	NP_001276865.1:n.2263-80G>C
NM_001289937.2:c.2308-80G>C	NP_001276866.1:n.2308-80G>C
NM_001382782.1:c.2218-80G>C	NP_001369711.1:n.2218-80G>C
NM_001382783.1:c.2218-80G>C	NP_001369712.1:n.2218-80G>C
NM_001382784.1:c.2425-80G>C	NP_001369713.1:n.2425-80G>C
NM_001382785.1:c.2410-80G>C	NP_001369714.1:n.2410-80G>C
NM_001382786.1:c.2389-80G>C	NP_001369715.1:n.2389-80G>C
NM_001382787.1:c.2383-80G>C	NP_001369716.1:n.2383-80G>C
NM_001382788.1:c.2338-80G>C	NP_001369717.1:n.2338-80G>C
NM_001382789.1:c.2329-80G>C	NP_001369718.1:n.2329-80G>C
NM_001382790.1:c.2305-80G>C	NP_001369719.1:n.2305-80G>C
NM_001382791.1:c.2299-80G>C	NP_001369720.1:n.2299-80G>C
NM_001382792.1:c.2272-80G>C	NP_001369721.1:n.2272-80G>C
NM_001382793.1:c.2266-80G>C	NP_001369722.1:n.2266-80G>C
NM_001382794.1:c.2266-80G>C	NP_001369723.1:n.2266-80G>C
NM_001382795.1:c.2260-80G>C	NP_001369724.1:n.2260-80G>C
NM_001382796.1:c.2308-80G>C	NP_001369725.1:n.2308-80G>C
NM_001382797.1:c.2209-80G>C	NP_001369726.1:n.2209-80G>C
NM_001382798.1:c.2308-80G>C	NP_001369727.1:n.2308-80G>C
NM_001382799.1:c.2128-80G>C	NP_001369728.1:n.2128-80G>C
NM_001382800.1:c.2308-403G>C	NP_001369729.1:n.2308-403G>C
NM_001382801.1:c.2260-80G>C	NP_001369730.1:n.2260-80G>C
NM_001382802.1:c.2050-80G>C	NP_001369731.1:n.2050-80G>C
NM_001382803.1:c.2266-80G>C	NP_001369732.1:n.2266-80G>C
NM_001382804.1:c.1480-80G>C	NP_001369733.1:n.1480-80G>C
NM_001382805.1:c.2208+986G>C	NP_001369734.1:n.2208+986G>C
NM_001382806.1:c.1270-80G>C	NP_001369735.1:n.1270-80G>C
NM_004448.4:c.2308-80G>C MANE Select	NP_004439.2:n.2308-80G>C
NR_110535.2:n.2546-80G>C