Canonical Allele Identifier: CA399303281

Gene: ERBB2

Linked Data

• dbSNP Id: rs1272619178
• MyVariant Identifiers: chr17:g.37881070T>C (hg19) ; chr17:g.39724817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724817T>C , CM000679.2:g.39724817T>C	GRCh38
NC_000017.10:g.37881070T>C , CM000679.1:g.37881070T>C	GRCh37
NC_000017.9:g.35134596T>C	NCBI36
NG_007503.1:g.41678T>C , LRG_724:g.41678T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2399T>C MANE Select	ENSP00000269571.4:p.Leu800Pro
ENST00000269571.9:c.2399T>C	ENSP00000269571.4:p.Leu800Pro
ENST00000406381.6:c.2309T>C	ENSP00000385185.2:p.Leu770Pro
ENST00000445658.6:c.1571T>C	ENSP00000404047.2:p.Leu524Pro
ENST00000541774.5:c.2354T>C	ENSP00000446466.1:p.Leu785Pro
ENST00000578373.5:c.*2189T>C	ENSP00000463427.1:n.*2189T>C
ENST00000580074.1:c.505T>C
ENST00000583038.5:n.3533T>C
ENST00000584450.5:c.2399T>C	ENSP00000463714.1:p.Leu800Pro
ENST00000584601.5:c.2309T>C	ENSP00000462438.1:p.Leu770Pro
NM_001005862.2:c.2309T>C , LRG_724t1:c.2309T>C	NP_001005862.1:p.Leu770Pro
NM_001289936.1:c.2354T>C , LRG_724t4:c.2354T>C	NP_001276865.1:p.Leu785Pro
NM_001289937.1:c.2399T>C	NP_001276866.1:p.Leu800Pro
NM_004448.3:c.2399T>C , LRG_724t2:c.2399T>C	NP_004439.2:p.Leu800Pro
NR_110535.1:n.2723T>C
XM_024450641.1:c.2537T>C	XP_024306409.1:p.Leu846Pro
XM_024450642.1:c.2492T>C	XP_024306410.1:p.Leu831Pro
XM_024450643.1:c.2447T>C	XP_024306411.1:p.Leu816Pro
NM_001005862.3:c.2309T>C	NP_001005862.1:p.Leu770Pro
NM_001289936.2:c.2354T>C	NP_001276865.1:p.Leu785Pro
NM_001289937.2:c.2399T>C	NP_001276866.1:p.Leu800Pro
NM_001382782.1:c.2309T>C	NP_001369711.1:p.Leu770Pro
NM_001382783.1:c.2309T>C	NP_001369712.1:p.Leu770Pro
NM_001382784.1:c.2516T>C	NP_001369713.1:p.Leu839Pro
NM_001382785.1:c.2501T>C	NP_001369714.1:p.Leu834Pro
NM_001382786.1:c.2480T>C	NP_001369715.1:p.Leu827Pro
NM_001382787.1:c.2474T>C	NP_001369716.1:p.Leu825Pro
NM_001382788.1:c.2429T>C	NP_001369717.1:p.Leu810Pro
NM_001382789.1:c.2420T>C	NP_001369718.1:p.Leu807Pro
NM_001382790.1:c.2396T>C	NP_001369719.1:p.Leu799Pro
NM_001382791.1:c.2390T>C	NP_001369720.1:p.Leu797Pro
NM_001382792.1:c.2363T>C	NP_001369721.1:p.Leu788Pro
NM_001382793.1:c.2357T>C	NP_001369722.1:p.Leu786Pro
NM_001382794.1:c.2357T>C	NP_001369723.1:p.Leu786Pro
NM_001382795.1:c.2351T>C	NP_001369724.1:p.Leu784Pro
NM_001382796.1:c.2399T>C	NP_001369725.1:p.Leu800Pro
NM_001382797.1:c.2300T>C	NP_001369726.1:p.Leu767Pro
NM_001382798.1:c.2399T>C	NP_001369727.1:p.Leu800Pro
NM_001382799.1:c.2219T>C	NP_001369728.1:p.Leu740Pro
NM_001382800.1:c.2308-232T>C	NP_001369729.1:n.2308-232T>C
NM_001382801.1:c.2351T>C	NP_001369730.1:p.Leu784Pro
NM_001382802.1:c.2141T>C	NP_001369731.1:p.Leu714Pro
NM_001382803.1:c.2357T>C	NP_001369732.1:p.Leu786Pro
NM_001382804.1:c.1571T>C	NP_001369733.1:p.Leu524Pro
NM_001382805.1:c.2208+1157T>C	NP_001369734.1:n.2208+1157T>C
NM_001382806.1:c.1361T>C	NP_001369735.1:p.Leu454Pro
NM_004448.4:c.2399T>C MANE Select	NP_004439.2:p.Leu800Pro
NR_110535.2:n.2637T>C