Canonical Allele Identifier: CA399304127

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37881315T>C (hg19) ; chr17:g.39725062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725062T>C , CM000679.2:g.39725062T>C	GRCh38
NC_000017.10:g.37881315T>C , CM000679.1:g.37881315T>C	GRCh37
NC_000017.9:g.35134841T>C	NCBI36
NG_007503.1:g.41923T>C , LRG_724:g.41923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2507T>C MANE Select	ENSP00000269571.4:p.Leu836Pro
ENST00000269571.9:c.2507T>C	ENSP00000269571.4:p.Leu836Pro
ENST00000406381.6:c.2417T>C	ENSP00000385185.2:p.Leu806Pro
ENST00000445658.6:c.1679T>C	ENSP00000404047.2:p.Leu560Pro
ENST00000541774.5:c.2462T>C	ENSP00000446466.1:p.Leu821Pro
ENST00000578373.5:c.*2297T>C	ENSP00000463427.1:n.*2297T>C
ENST00000580074.1:c.613T>C
ENST00000583038.5:n.3641T>C
ENST00000584450.5:c.2507T>C	ENSP00000463714.1:p.Leu836Pro
ENST00000584601.5:c.2417T>C	ENSP00000462438.1:p.Leu806Pro
NM_001005862.2:c.2417T>C , LRG_724t1:c.2417T>C	NP_001005862.1:p.Leu806Pro
NM_001289936.1:c.2462T>C , LRG_724t4:c.2462T>C	NP_001276865.1:p.Leu821Pro
NM_001289937.1:c.2507T>C	NP_001276866.1:p.Leu836Pro
NM_004448.3:c.2507T>C , LRG_724t2:c.2507T>C	NP_004439.2:p.Leu836Pro
NR_110535.1:n.2831T>C
XM_024450641.1:c.2645T>C	XP_024306409.1:p.Leu882Pro
XM_024450642.1:c.2600T>C	XP_024306410.1:p.Leu867Pro
XM_024450643.1:c.2555T>C	XP_024306411.1:p.Leu852Pro
NM_001005862.3:c.2417T>C	NP_001005862.1:p.Leu806Pro
NM_001289936.2:c.2462T>C	NP_001276865.1:p.Leu821Pro
NM_001289937.2:c.2507T>C	NP_001276866.1:p.Leu836Pro
NM_001382782.1:c.2417T>C	NP_001369711.1:p.Leu806Pro
NM_001382783.1:c.2417T>C	NP_001369712.1:p.Leu806Pro
NM_001382784.1:c.2624T>C	NP_001369713.1:p.Leu875Pro
NM_001382785.1:c.2609T>C	NP_001369714.1:p.Leu870Pro
NM_001382786.1:c.2588T>C	NP_001369715.1:p.Leu863Pro
NM_001382787.1:c.2582T>C	NP_001369716.1:p.Leu861Pro
NM_001382788.1:c.2537T>C	NP_001369717.1:p.Leu846Pro
NM_001382789.1:c.2528T>C	NP_001369718.1:p.Leu843Pro
NM_001382790.1:c.2504T>C	NP_001369719.1:p.Leu835Pro
NM_001382791.1:c.2498T>C	NP_001369720.1:p.Leu833Pro
NM_001382792.1:c.2471T>C	NP_001369721.1:p.Leu824Pro
NM_001382793.1:c.2465T>C	NP_001369722.1:p.Leu822Pro
NM_001382794.1:c.2465T>C	NP_001369723.1:p.Leu822Pro
NM_001382795.1:c.2459T>C	NP_001369724.1:p.Leu820Pro
NM_001382796.1:c.2507T>C	NP_001369725.1:p.Leu836Pro
NM_001382797.1:c.2408T>C	NP_001369726.1:p.Leu803Pro
NM_001382798.1:c.2493+151T>C	NP_001369727.1:n.2493+151T>C
NM_001382799.1:c.2327T>C	NP_001369728.1:p.Leu776Pro
NM_001382800.1:c.2321T>C	NP_001369729.1:p.Leu774Pro
NM_001382801.1:c.2445+151T>C	NP_001369730.1:n.2445+151T>C
NM_001382802.1:c.2249T>C	NP_001369731.1:p.Leu750Pro
NM_001382803.1:c.2465T>C	NP_001369732.1:p.Leu822Pro
NM_001382804.1:c.1679T>C	NP_001369733.1:p.Leu560Pro
NM_001382805.1:c.2208+1402T>C	NP_001369734.1:n.2208+1402T>C
NM_001382806.1:c.1469T>C	NP_001369735.1:p.Leu490Pro
NM_004448.4:c.2507T>C MANE Select	NP_004439.2:p.Leu836Pro
NR_110535.2:n.2745T>C