Canonical Allele Identifier: CA399303212

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145850231
• MyVariant Identifiers: chr17:g.37881060G>C (hg19) ; chr17:g.39724807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724807G>C , CM000679.2:g.39724807G>C	GRCh38
NC_000017.10:g.37881060G>C , CM000679.1:g.37881060G>C	GRCh37
NC_000017.9:g.35134586G>C	NCBI36
NG_007503.1:g.41668G>C , LRG_724:g.41668G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2389G>C MANE Select	ENSP00000269571.4:p.Val797Leu
ENST00000269571.9:c.2389G>C	ENSP00000269571.4:p.Val797Leu
ENST00000406381.6:c.2299G>C	ENSP00000385185.2:p.Val767Leu
ENST00000445658.6:c.1561G>C	ENSP00000404047.2:p.Val521Leu
ENST00000541774.5:c.2344G>C	ENSP00000446466.1:p.Val782Leu
ENST00000578373.5:c.*2179G>C	ENSP00000463427.1:n.*2179G>C
ENST00000580074.1:c.495G>C
ENST00000583038.5:n.3523G>C
ENST00000584450.5:c.2389G>C	ENSP00000463714.1:p.Val797Leu
ENST00000584601.5:c.2299G>C	ENSP00000462438.1:p.Val767Leu
NM_001005862.2:c.2299G>C , LRG_724t1:c.2299G>C	NP_001005862.1:p.Val767Leu
NM_001289936.1:c.2344G>C , LRG_724t4:c.2344G>C	NP_001276865.1:p.Val782Leu
NM_001289937.1:c.2389G>C	NP_001276866.1:p.Val797Leu
NM_004448.3:c.2389G>C , LRG_724t2:c.2389G>C	NP_004439.2:p.Val797Leu
NR_110535.1:n.2713G>C
XM_024450641.1:c.2527G>C	XP_024306409.1:p.Val843Leu
XM_024450642.1:c.2482G>C	XP_024306410.1:p.Val828Leu
XM_024450643.1:c.2437G>C	XP_024306411.1:p.Val813Leu
NM_001005862.3:c.2299G>C	NP_001005862.1:p.Val767Leu
NM_001289936.2:c.2344G>C	NP_001276865.1:p.Val782Leu
NM_001289937.2:c.2389G>C	NP_001276866.1:p.Val797Leu
NM_001382782.1:c.2299G>C	NP_001369711.1:p.Val767Leu
NM_001382783.1:c.2299G>C	NP_001369712.1:p.Val767Leu
NM_001382784.1:c.2506G>C	NP_001369713.1:p.Val836Leu
NM_001382785.1:c.2491G>C	NP_001369714.1:p.Val831Leu
NM_001382786.1:c.2470G>C	NP_001369715.1:p.Val824Leu
NM_001382787.1:c.2464G>C	NP_001369716.1:p.Val822Leu
NM_001382788.1:c.2419G>C	NP_001369717.1:p.Val807Leu
NM_001382789.1:c.2410G>C	NP_001369718.1:p.Val804Leu
NM_001382790.1:c.2386G>C	NP_001369719.1:p.Val796Leu
NM_001382791.1:c.2380G>C	NP_001369720.1:p.Val794Leu
NM_001382792.1:c.2353G>C	NP_001369721.1:p.Val785Leu
NM_001382793.1:c.2347G>C	NP_001369722.1:p.Val783Leu
NM_001382794.1:c.2347G>C	NP_001369723.1:p.Val783Leu
NM_001382795.1:c.2341G>C	NP_001369724.1:p.Val781Leu
NM_001382796.1:c.2389G>C	NP_001369725.1:p.Val797Leu
NM_001382797.1:c.2290G>C	NP_001369726.1:p.Val764Leu
NM_001382798.1:c.2389G>C	NP_001369727.1:p.Val797Leu
NM_001382799.1:c.2209G>C	NP_001369728.1:p.Val737Leu
NM_001382800.1:c.2308-242G>C	NP_001369729.1:n.2308-242G>C
NM_001382801.1:c.2341G>C	NP_001369730.1:p.Val781Leu
NM_001382802.1:c.2131G>C	NP_001369731.1:p.Val711Leu
NM_001382803.1:c.2347G>C	NP_001369732.1:p.Val783Leu
NM_001382804.1:c.1561G>C	NP_001369733.1:p.Val521Leu
NM_001382805.1:c.2208+1147G>C	NP_001369734.1:n.2208+1147G>C
NM_001382806.1:c.1351G>C	NP_001369735.1:p.Val451Leu
NM_004448.4:c.2389G>C MANE Select	NP_004439.2:p.Val797Leu
NR_110535.2:n.2627G>C