Canonical Allele Identifier: CA399310372

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727359-T-C
• MyVariant Identifiers: chr17:g.37883612T>C (hg19) ; chr17:g.39727359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727359T>C , CM000679.2:g.39727359T>C	GRCh38
NC_000017.10:g.37883612T>C , CM000679.1:g.37883612T>C	GRCh37
NC_000017.9:g.35137138T>C	NCBI36
NG_007503.1:g.44220T>C , LRG_724:g.44220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3224T>C MANE Select	ENSP00000269571.4:p.Leu1075Pro
ENST00000269571.9:c.3224T>C	ENSP00000269571.4:p.Leu1075Pro
ENST00000406381.6:c.3134T>C	ENSP00000385185.2:p.Leu1045Pro
ENST00000445658.6:c.2396T>C	ENSP00000404047.2:p.Leu799Pro
ENST00000541774.5:c.3179T>C	ENSP00000446466.1:p.Leu1060Pro
ENST00000578373.5:c.*3014T>C	ENSP00000463427.1:n.*3014T>C
ENST00000584450.5:c.3160-330T>C	ENSP00000463714.1:n.3160-330T>C
ENST00000584601.5:c.3134T>C	ENSP00000462438.1:p.Leu1045Pro
NM_001005862.2:c.3134T>C , LRG_724t1:c.3134T>C	NP_001005862.1:p.Leu1045Pro
NM_001289936.1:c.3179T>C , LRG_724t4:c.3179T>C	NP_001276865.1:p.Leu1060Pro
NM_001289937.1:c.3160-330T>C	NP_001276866.1:n.3160-330T>C
NM_004448.3:c.3224T>C , LRG_724t2:c.3224T>C	NP_004439.2:p.Leu1075Pro
NR_110535.1:n.3548T>C
XM_024450641.1:c.3362T>C	XP_024306409.1:p.Leu1121Pro
XM_024450642.1:c.3317T>C	XP_024306410.1:p.Leu1106Pro
XM_024450643.1:c.3272T>C	XP_024306411.1:p.Leu1091Pro
NM_001005862.3:c.3134T>C	NP_001005862.1:p.Leu1045Pro
NM_001289936.2:c.3179T>C	NP_001276865.1:p.Leu1060Pro
NM_001289937.2:c.3160-330T>C	NP_001276866.1:n.3160-330T>C
NM_001382782.1:c.3134T>C	NP_001369711.1:p.Leu1045Pro
NM_001382783.1:c.3134T>C	NP_001369712.1:p.Leu1045Pro
NM_001382784.1:c.3341T>C	NP_001369713.1:p.Leu1114Pro
NM_001382785.1:c.3326T>C	NP_001369714.1:p.Leu1109Pro
NM_001382786.1:c.3305T>C	NP_001369715.1:p.Leu1102Pro
NM_001382787.1:c.3299T>C	NP_001369716.1:p.Leu1100Pro
NM_001382788.1:c.3254T>C	NP_001369717.1:p.Leu1085Pro
NM_001382789.1:c.3245T>C	NP_001369718.1:p.Leu1082Pro
NM_001382790.1:c.3221T>C	NP_001369719.1:p.Leu1074Pro
NM_001382791.1:c.3215T>C	NP_001369720.1:p.Leu1072Pro
NM_001382792.1:c.3188T>C	NP_001369721.1:p.Leu1063Pro
NM_001382793.1:c.3182T>C	NP_001369722.1:p.Leu1061Pro
NM_001382794.1:c.3182T>C	NP_001369723.1:p.Leu1061Pro
NM_001382795.1:c.3176T>C	NP_001369724.1:p.Leu1059Pro
NM_001382796.1:c.3137T>C	NP_001369725.1:p.Leu1046Pro
NM_001382797.1:c.3125T>C	NP_001369726.1:p.Leu1042Pro
NM_001382798.1:c.3068T>C	NP_001369727.1:p.Leu1023Pro
NM_001382799.1:c.3044T>C	NP_001369728.1:p.Leu1015Pro
NM_001382800.1:c.3038T>C	NP_001369729.1:p.Leu1013Pro
NM_001382801.1:c.3020T>C	NP_001369730.1:p.Leu1007Pro
NM_001382802.1:c.2966T>C	NP_001369731.1:p.Leu989Pro
NM_001382803.1:c.3118-330T>C	NP_001369732.1:n.3118-330T>C
NM_001382804.1:c.2396T>C	NP_001369733.1:p.Leu799Pro
NM_001382805.1:c.2273T>C	NP_001369734.1:p.Leu758Pro
NM_001382806.1:c.2186T>C	NP_001369735.1:p.Leu729Pro
NM_004448.4:c.3224T>C MANE Select	NP_004439.2:p.Leu1075Pro
NR_110535.2:n.3462T>C