Canonical Allele Identifier: CA399304387

Gene: ERBB2

Linked Data

• dbSNP Id: rs370816244
• MyVariant Identifiers: chr17:g.37881344T>A (hg19) ; chr17:g.39725091T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725091T>A , CM000679.2:g.39725091T>A	GRCh38
NC_000017.10:g.37881344T>A , CM000679.1:g.37881344T>A	GRCh37
NC_000017.9:g.35134870T>A	NCBI36
NG_007503.1:g.41952T>A , LRG_724:g.41952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2536T>A MANE Select	ENSP00000269571.4:p.Leu846Met
ENST00000269571.9:c.2536T>A	ENSP00000269571.4:p.Leu846Met
ENST00000406381.6:c.2446T>A	ENSP00000385185.2:p.Leu816Met
ENST00000445658.6:c.1708T>A	ENSP00000404047.2:p.Leu570Met
ENST00000541774.5:c.2491T>A	ENSP00000446466.1:p.Leu831Met
ENST00000578373.5:c.*2326T>A	ENSP00000463427.1:n.*2326T>A
ENST00000580074.1:c.642T>A
ENST00000583038.5:n.3670T>A
ENST00000584450.5:c.2536T>A	ENSP00000463714.1:p.Leu846Met
ENST00000584601.5:c.2446T>A	ENSP00000462438.1:p.Leu816Met
NM_001005862.2:c.2446T>A , LRG_724t1:c.2446T>A	NP_001005862.1:p.Leu816Met
NM_001289936.1:c.2491T>A , LRG_724t4:c.2491T>A	NP_001276865.1:p.Leu831Met
NM_001289937.1:c.2536T>A	NP_001276866.1:p.Leu846Met
NM_004448.3:c.2536T>A , LRG_724t2:c.2536T>A	NP_004439.2:p.Leu846Met
NR_110535.1:n.2860T>A
XM_024450641.1:c.2674T>A	XP_024306409.1:p.Leu892Met
XM_024450642.1:c.2629T>A	XP_024306410.1:p.Leu877Met
XM_024450643.1:c.2584T>A	XP_024306411.1:p.Leu862Met
NM_001005862.3:c.2446T>A	NP_001005862.1:p.Leu816Met
NM_001289936.2:c.2491T>A	NP_001276865.1:p.Leu831Met
NM_001289937.2:c.2536T>A	NP_001276866.1:p.Leu846Met
NM_001382782.1:c.2446T>A	NP_001369711.1:p.Leu816Met
NM_001382783.1:c.2446T>A	NP_001369712.1:p.Leu816Met
NM_001382784.1:c.2653T>A	NP_001369713.1:p.Leu885Met
NM_001382785.1:c.2638T>A	NP_001369714.1:p.Leu880Met
NM_001382786.1:c.2617T>A	NP_001369715.1:p.Leu873Met
NM_001382787.1:c.2611T>A	NP_001369716.1:p.Leu871Met
NM_001382788.1:c.2566T>A	NP_001369717.1:p.Leu856Met
NM_001382789.1:c.2557T>A	NP_001369718.1:p.Leu853Met
NM_001382790.1:c.2533T>A	NP_001369719.1:p.Leu845Met
NM_001382791.1:c.2527T>A	NP_001369720.1:p.Leu843Met
NM_001382792.1:c.2500T>A	NP_001369721.1:p.Leu834Met
NM_001382793.1:c.2494T>A	NP_001369722.1:p.Leu832Met
NM_001382794.1:c.2494T>A	NP_001369723.1:p.Leu832Met
NM_001382795.1:c.2488T>A	NP_001369724.1:p.Leu830Met
NM_001382796.1:c.2536T>A	NP_001369725.1:p.Leu846Met
NM_001382797.1:c.2437T>A	NP_001369726.1:p.Leu813Met
NM_001382798.1:c.2493+180T>A	NP_001369727.1:n.2493+180T>A
NM_001382799.1:c.2356T>A	NP_001369728.1:p.Leu786Met
NM_001382800.1:c.2350T>A	NP_001369729.1:p.Leu784Met
NM_001382801.1:c.2445+180T>A	NP_001369730.1:n.2445+180T>A
NM_001382802.1:c.2278T>A	NP_001369731.1:p.Leu760Met
NM_001382803.1:c.2494T>A	NP_001369732.1:p.Leu832Met
NM_001382804.1:c.1708T>A	NP_001369733.1:p.Leu570Met
NM_001382805.1:c.2208+1431T>A	NP_001369734.1:n.2208+1431T>A
NM_001382806.1:c.1498T>A	NP_001369735.1:p.Leu500Met
NM_004448.4:c.2536T>A MANE Select	NP_004439.2:p.Leu846Met
NR_110535.2:n.2774T>A