Canonical Allele Identifier: CA399310222

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143235287
• gnomAD v4: 17-39727329-C-T
• MyVariant Identifiers: chr17:g.37883582C>T (hg19) ; chr17:g.39727329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727329C>T , CM000679.2:g.39727329C>T	GRCh38
NC_000017.10:g.37883582C>T , CM000679.1:g.37883582C>T	GRCh37
NC_000017.9:g.35137108C>T	NCBI36
NG_007503.1:g.44190C>T , LRG_724:g.44190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3194C>T MANE Select	ENSP00000269571.4:p.Pro1065Leu
ENST00000269571.9:c.3194C>T	ENSP00000269571.4:p.Pro1065Leu
ENST00000406381.6:c.3104C>T	ENSP00000385185.2:p.Pro1035Leu
ENST00000445658.6:c.2366C>T	ENSP00000404047.2:p.Pro789Leu
ENST00000541774.5:c.3149C>T	ENSP00000446466.1:p.Pro1050Leu
ENST00000578373.5:c.*2984C>T	ENSP00000463427.1:n.*2984C>T
ENST00000584450.5:c.3159+326C>T	ENSP00000463714.1:n.3159+326C>T
ENST00000584601.5:c.3104C>T	ENSP00000462438.1:p.Pro1035Leu
NM_001005862.2:c.3104C>T , LRG_724t1:c.3104C>T	NP_001005862.1:p.Pro1035Leu
NM_001289936.1:c.3149C>T , LRG_724t4:c.3149C>T	NP_001276865.1:p.Pro1050Leu
NM_001289937.1:c.3159+326C>T	NP_001276866.1:n.3159+326C>T
NM_004448.3:c.3194C>T , LRG_724t2:c.3194C>T	NP_004439.2:p.Pro1065Leu
NR_110535.1:n.3518C>T
XM_024450641.1:c.3332C>T	XP_024306409.1:p.Pro1111Leu
XM_024450642.1:c.3287C>T	XP_024306410.1:p.Pro1096Leu
XM_024450643.1:c.3242C>T	XP_024306411.1:p.Pro1081Leu
NM_001005862.3:c.3104C>T	NP_001005862.1:p.Pro1035Leu
NM_001289936.2:c.3149C>T	NP_001276865.1:p.Pro1050Leu
NM_001289937.2:c.3159+326C>T	NP_001276866.1:n.3159+326C>T
NM_001382782.1:c.3104C>T	NP_001369711.1:p.Pro1035Leu
NM_001382783.1:c.3104C>T	NP_001369712.1:p.Pro1035Leu
NM_001382784.1:c.3311C>T	NP_001369713.1:p.Pro1104Leu
NM_001382785.1:c.3296C>T	NP_001369714.1:p.Pro1099Leu
NM_001382786.1:c.3275C>T	NP_001369715.1:p.Pro1092Leu
NM_001382787.1:c.3269C>T	NP_001369716.1:p.Pro1090Leu
NM_001382788.1:c.3224C>T	NP_001369717.1:p.Pro1075Leu
NM_001382789.1:c.3215C>T	NP_001369718.1:p.Pro1072Leu
NM_001382790.1:c.3191C>T	NP_001369719.1:p.Pro1064Leu
NM_001382791.1:c.3185C>T	NP_001369720.1:p.Pro1062Leu
NM_001382792.1:c.3158C>T	NP_001369721.1:p.Pro1053Leu
NM_001382793.1:c.3152C>T	NP_001369722.1:p.Pro1051Leu
NM_001382794.1:c.3152C>T	NP_001369723.1:p.Pro1051Leu
NM_001382795.1:c.3146C>T	NP_001369724.1:p.Pro1049Leu
NM_001382796.1:c.3107C>T	NP_001369725.1:p.Pro1036Leu
NM_001382797.1:c.3095C>T	NP_001369726.1:p.Pro1032Leu
NM_001382798.1:c.3038C>T	NP_001369727.1:p.Pro1013Leu
NM_001382799.1:c.3014C>T	NP_001369728.1:p.Pro1005Leu
NM_001382800.1:c.3008C>T	NP_001369729.1:p.Pro1003Leu
NM_001382801.1:c.2990C>T	NP_001369730.1:p.Pro997Leu
NM_001382802.1:c.2936C>T	NP_001369731.1:p.Pro979Leu
NM_001382803.1:c.3117+326C>T	NP_001369732.1:n.3117+326C>T
NM_001382804.1:c.2366C>T	NP_001369733.1:p.Pro789Leu
NM_001382805.1:c.2243C>T	NP_001369734.1:p.Pro748Leu
NM_001382806.1:c.2156C>T	NP_001369735.1:p.Pro719Leu
NM_004448.4:c.3194C>T MANE Select	NP_004439.2:p.Pro1065Leu
NR_110535.2:n.3432C>T