Canonical Allele Identifier: CA399303380

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145851345
• gnomAD v4: 17-39724834-C-T
• MyVariant Identifiers: chr17:g.37881087C>T (hg19) ; chr17:g.39724834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724834C>T , CM000679.2:g.39724834C>T	GRCh38
NC_000017.10:g.37881087C>T , CM000679.1:g.37881087C>T	GRCh37
NC_000017.9:g.35134613C>T	NCBI36
NG_007503.1:g.41695C>T , LRG_724:g.41695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2416C>T MANE Select	ENSP00000269571.4:p.Leu806Phe
ENST00000269571.9:c.2416C>T	ENSP00000269571.4:p.Leu806Phe
ENST00000406381.6:c.2326C>T	ENSP00000385185.2:p.Leu776Phe
ENST00000445658.6:c.1588C>T	ENSP00000404047.2:p.Leu530Phe
ENST00000541774.5:c.2371C>T	ENSP00000446466.1:p.Leu791Phe
ENST00000578373.5:c.*2206C>T	ENSP00000463427.1:n.*2206C>T
ENST00000580074.1:c.522C>T
ENST00000583038.5:n.3550C>T
ENST00000584450.5:c.2416C>T	ENSP00000463714.1:p.Leu806Phe
ENST00000584601.5:c.2326C>T	ENSP00000462438.1:p.Leu776Phe
NM_001005862.2:c.2326C>T , LRG_724t1:c.2326C>T	NP_001005862.1:p.Leu776Phe
NM_001289936.1:c.2371C>T , LRG_724t4:c.2371C>T	NP_001276865.1:p.Leu791Phe
NM_001289937.1:c.2416C>T	NP_001276866.1:p.Leu806Phe
NM_004448.3:c.2416C>T , LRG_724t2:c.2416C>T	NP_004439.2:p.Leu806Phe
NR_110535.1:n.2740C>T
XM_024450641.1:c.2554C>T	XP_024306409.1:p.Leu852Phe
XM_024450642.1:c.2509C>T	XP_024306410.1:p.Leu837Phe
XM_024450643.1:c.2464C>T	XP_024306411.1:p.Leu822Phe
NM_001005862.3:c.2326C>T	NP_001005862.1:p.Leu776Phe
NM_001289936.2:c.2371C>T	NP_001276865.1:p.Leu791Phe
NM_001289937.2:c.2416C>T	NP_001276866.1:p.Leu806Phe
NM_001382782.1:c.2326C>T	NP_001369711.1:p.Leu776Phe
NM_001382783.1:c.2326C>T	NP_001369712.1:p.Leu776Phe
NM_001382784.1:c.2533C>T	NP_001369713.1:p.Leu845Phe
NM_001382785.1:c.2518C>T	NP_001369714.1:p.Leu840Phe
NM_001382786.1:c.2497C>T	NP_001369715.1:p.Leu833Phe
NM_001382787.1:c.2491C>T	NP_001369716.1:p.Leu831Phe
NM_001382788.1:c.2446C>T	NP_001369717.1:p.Leu816Phe
NM_001382789.1:c.2437C>T	NP_001369718.1:p.Leu813Phe
NM_001382790.1:c.2413C>T	NP_001369719.1:p.Leu805Phe
NM_001382791.1:c.2407C>T	NP_001369720.1:p.Leu803Phe
NM_001382792.1:c.2380C>T	NP_001369721.1:p.Leu794Phe
NM_001382793.1:c.2374C>T	NP_001369722.1:p.Leu792Phe
NM_001382794.1:c.2374C>T	NP_001369723.1:p.Leu792Phe
NM_001382795.1:c.2368C>T	NP_001369724.1:p.Leu790Phe
NM_001382796.1:c.2416C>T	NP_001369725.1:p.Leu806Phe
NM_001382797.1:c.2317C>T	NP_001369726.1:p.Leu773Phe
NM_001382798.1:c.2416C>T	NP_001369727.1:p.Leu806Phe
NM_001382799.1:c.2236C>T	NP_001369728.1:p.Leu746Phe
NM_001382800.1:c.2308-215C>T	NP_001369729.1:n.2308-215C>T
NM_001382801.1:c.2368C>T	NP_001369730.1:p.Leu790Phe
NM_001382802.1:c.2158C>T	NP_001369731.1:p.Leu720Phe
NM_001382803.1:c.2374C>T	NP_001369732.1:p.Leu792Phe
NM_001382804.1:c.1588C>T	NP_001369733.1:p.Leu530Phe
NM_001382805.1:c.2208+1174C>T	NP_001369734.1:n.2208+1174C>T
NM_001382806.1:c.1378C>T	NP_001369735.1:p.Leu460Phe
NM_004448.4:c.2416C>T MANE Select	NP_004439.2:p.Leu806Phe
NR_110535.2:n.2654C>T