Canonical Allele Identifier: CA399304718

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145865545
• gnomAD v4: 17-39725135-A-T
• MyVariant Identifiers: chr17:g.37881388A>T (hg19) ; chr17:g.39725135A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725135A>T , CM000679.2:g.39725135A>T	GRCh38
NC_000017.10:g.37881388A>T , CM000679.1:g.37881388A>T	GRCh37
NC_000017.9:g.35134914A>T	NCBI36
NG_007503.1:g.41996A>T , LRG_724:g.41996A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2580A>T MANE Select	ENSP00000269571.4:p.Lys860Asn
ENST00000269571.9:c.2580A>T	ENSP00000269571.4:p.Lys860Asn
ENST00000406381.6:c.2490A>T	ENSP00000385185.2:p.Lys830Asn
ENST00000445658.6:c.1752A>T	ENSP00000404047.2:p.Lys584Asn
ENST00000541774.5:c.2535A>T	ENSP00000446466.1:p.Lys845Asn
ENST00000578373.5:c.*2370A>T	ENSP00000463427.1:n.*2370A>T
ENST00000580074.1:c.686A>T
ENST00000583038.5:n.3714A>T
ENST00000584450.5:c.2580A>T	ENSP00000463714.1:p.Lys860Asn
ENST00000584601.5:c.2490A>T	ENSP00000462438.1:p.Lys830Asn
NM_001005862.2:c.2490A>T , LRG_724t1:c.2490A>T	NP_001005862.1:p.Lys830Asn
NM_001289936.1:c.2535A>T , LRG_724t4:c.2535A>T	NP_001276865.1:p.Lys845Asn
NM_001289937.1:c.2580A>T	NP_001276866.1:p.Lys860Asn
NM_004448.3:c.2580A>T , LRG_724t2:c.2580A>T	NP_004439.2:p.Lys860Asn
NR_110535.1:n.2904A>T
XM_024450641.1:c.2718A>T	XP_024306409.1:p.Lys906Asn
XM_024450642.1:c.2673A>T	XP_024306410.1:p.Lys891Asn
XM_024450643.1:c.2628A>T	XP_024306411.1:p.Lys876Asn
NM_001005862.3:c.2490A>T	NP_001005862.1:p.Lys830Asn
NM_001289936.2:c.2535A>T	NP_001276865.1:p.Lys845Asn
NM_001289937.2:c.2580A>T	NP_001276866.1:p.Lys860Asn
NM_001382782.1:c.2490A>T	NP_001369711.1:p.Lys830Asn
NM_001382783.1:c.2490A>T	NP_001369712.1:p.Lys830Asn
NM_001382784.1:c.2697A>T	NP_001369713.1:p.Lys899Asn
NM_001382785.1:c.2682A>T	NP_001369714.1:p.Lys894Asn
NM_001382786.1:c.2661A>T	NP_001369715.1:p.Lys887Asn
NM_001382787.1:c.2655A>T	NP_001369716.1:p.Lys885Asn
NM_001382788.1:c.2610A>T	NP_001369717.1:p.Lys870Asn
NM_001382789.1:c.2601A>T	NP_001369718.1:p.Lys867Asn
NM_001382790.1:c.2577A>T	NP_001369719.1:p.Lys859Asn
NM_001382791.1:c.2571A>T	NP_001369720.1:p.Lys857Asn
NM_001382792.1:c.2544A>T	NP_001369721.1:p.Lys848Asn
NM_001382793.1:c.2538A>T	NP_001369722.1:p.Lys846Asn
NM_001382794.1:c.2538A>T	NP_001369723.1:p.Lys846Asn
NM_001382795.1:c.2532A>T	NP_001369724.1:p.Lys844Asn
NM_001382796.1:c.2580A>T	NP_001369725.1:p.Lys860Asn
NM_001382797.1:c.2481A>T	NP_001369726.1:p.Lys827Asn
NM_001382798.1:c.2494-192A>T	NP_001369727.1:n.2494-192A>T
NM_001382799.1:c.2400A>T	NP_001369728.1:p.Lys800Asn
NM_001382800.1:c.2394A>T	NP_001369729.1:p.Lys798Asn
NM_001382801.1:c.2446-192A>T	NP_001369730.1:n.2446-192A>T
NM_001382802.1:c.2322A>T	NP_001369731.1:p.Lys774Asn
NM_001382803.1:c.2538A>T	NP_001369732.1:p.Lys846Asn
NM_001382804.1:c.1752A>T	NP_001369733.1:p.Lys584Asn
NM_001382805.1:c.2208+1475A>T	NP_001369734.1:n.2208+1475A>T
NM_001382806.1:c.1542A>T	NP_001369735.1:p.Lys514Asn
NM_004448.4:c.2580A>T MANE Select	NP_004439.2:p.Lys860Asn
NR_110535.2:n.2818A>T