Canonical Allele Identifier: CA399310402

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059833084
• gnomAD v4: 17-39727365-C-A
• MyVariant Identifiers: chr17:g.37883618C>A (hg19) ; chr17:g.39727365C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727365C>A , CM000679.2:g.39727365C>A	GRCh38
NC_000017.10:g.37883618C>A , CM000679.1:g.37883618C>A	GRCh37
NC_000017.9:g.35137144C>A	NCBI36
NG_007503.1:g.44226C>A , LRG_724:g.44226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3230C>A MANE Select	ENSP00000269571.4:p.Pro1077His
ENST00000269571.9:c.3230C>A	ENSP00000269571.4:p.Pro1077His
ENST00000406381.6:c.3140C>A	ENSP00000385185.2:p.Pro1047His
ENST00000445658.6:c.2402C>A	ENSP00000404047.2:p.Pro801His
ENST00000541774.5:c.3185C>A	ENSP00000446466.1:p.Pro1062His
ENST00000578373.5:c.*3020C>A	ENSP00000463427.1:n.*3020C>A
ENST00000584450.5:c.3160-324C>A	ENSP00000463714.1:n.3160-324C>A
ENST00000584601.5:c.3140C>A	ENSP00000462438.1:p.Pro1047His
NM_001005862.2:c.3140C>A , LRG_724t1:c.3140C>A	NP_001005862.1:p.Pro1047His
NM_001289936.1:c.3185C>A , LRG_724t4:c.3185C>A	NP_001276865.1:p.Pro1062His
NM_001289937.1:c.3160-324C>A	NP_001276866.1:n.3160-324C>A
NM_004448.3:c.3230C>A , LRG_724t2:c.3230C>A	NP_004439.2:p.Pro1077His
NR_110535.1:n.3554C>A
XM_024450641.1:c.3368C>A	XP_024306409.1:p.Pro1123His
XM_024450642.1:c.3323C>A	XP_024306410.1:p.Pro1108His
XM_024450643.1:c.3278C>A	XP_024306411.1:p.Pro1093His
NM_001005862.3:c.3140C>A	NP_001005862.1:p.Pro1047His
NM_001289936.2:c.3185C>A	NP_001276865.1:p.Pro1062His
NM_001289937.2:c.3160-324C>A	NP_001276866.1:n.3160-324C>A
NM_001382782.1:c.3140C>A	NP_001369711.1:p.Pro1047His
NM_001382783.1:c.3140C>A	NP_001369712.1:p.Pro1047His
NM_001382784.1:c.3347C>A	NP_001369713.1:p.Pro1116His
NM_001382785.1:c.3332C>A	NP_001369714.1:p.Pro1111His
NM_001382786.1:c.3311C>A	NP_001369715.1:p.Pro1104His
NM_001382787.1:c.3305C>A	NP_001369716.1:p.Pro1102His
NM_001382788.1:c.3260C>A	NP_001369717.1:p.Pro1087His
NM_001382789.1:c.3251C>A	NP_001369718.1:p.Pro1084His
NM_001382790.1:c.3227C>A	NP_001369719.1:p.Pro1076His
NM_001382791.1:c.3221C>A	NP_001369720.1:p.Pro1074His
NM_001382792.1:c.3194C>A	NP_001369721.1:p.Pro1065His
NM_001382793.1:c.3188C>A	NP_001369722.1:p.Pro1063His
NM_001382794.1:c.3188C>A	NP_001369723.1:p.Pro1063His
NM_001382795.1:c.3182C>A	NP_001369724.1:p.Pro1061His
NM_001382796.1:c.3143C>A	NP_001369725.1:p.Pro1048His
NM_001382797.1:c.3131C>A	NP_001369726.1:p.Pro1044His
NM_001382798.1:c.3074C>A	NP_001369727.1:p.Pro1025His
NM_001382799.1:c.3050C>A	NP_001369728.1:p.Pro1017His
NM_001382800.1:c.3044C>A	NP_001369729.1:p.Pro1015His
NM_001382801.1:c.3026C>A	NP_001369730.1:p.Pro1009His
NM_001382802.1:c.2972C>A	NP_001369731.1:p.Pro991His
NM_001382803.1:c.3118-324C>A	NP_001369732.1:n.3118-324C>A
NM_001382804.1:c.2402C>A	NP_001369733.1:p.Pro801His
NM_001382805.1:c.2279C>A	NP_001369734.1:p.Pro760His
NM_001382806.1:c.2192C>A	NP_001369735.1:p.Pro731His
NM_004448.4:c.3230C>A MANE Select	NP_004439.2:p.Pro1077His
NR_110535.2:n.3468C>A