Canonical Allele Identifier: CA499890266

Gene: ERBB2

Linked Data

• dbSNP Id: rs1180819046
• gnomAD v2: 17-37883746-C-T
• gnomAD v4: 17-39727493-C-T
• MyVariant Identifiers: chr17:g.37883746C>T (hg19) ; chr17:g.39727493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727493C>T , CM000679.2:g.39727493C>T	GRCh38
NC_000017.10:g.37883746C>T , CM000679.1:g.37883746C>T	GRCh37
NC_000017.9:g.35137272C>T	NCBI36
NG_007503.1:g.44354C>T , LRG_724:g.44354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3358C>T MANE Select	ENSP00000269571.4:p.Leu1120=
ENST00000269571.9:c.3358C>T	ENSP00000269571.4:p.Leu1120=
ENST00000406381.6:c.3268C>T	ENSP00000385185.2:p.Leu1090=
ENST00000445658.6:c.2530C>T	ENSP00000404047.2:p.Leu844=
ENST00000541774.5:c.3313C>T	ENSP00000446466.1:p.Leu1105=
ENST00000578373.5:c.*3148C>T	ENSP00000463427.1:n.*3148C>T
ENST00000584450.5:c.3160-196C>T	ENSP00000463714.1:n.3160-196C>T
ENST00000584601.5:c.3268C>T	ENSP00000462438.1:p.Leu1090=
NM_001005862.2:c.3268C>T , LRG_724t1:c.3268C>T	NP_001005862.1:p.Leu1090=
NM_001289936.1:c.3313C>T , LRG_724t4:c.3313C>T	NP_001276865.1:p.Leu1105=
NM_001289937.1:c.3160-196C>T	NP_001276866.1:n.3160-196C>T
NM_004448.3:c.3358C>T , LRG_724t2:c.3358C>T	NP_004439.2:p.Leu1120=
NR_110535.1:n.3682C>T
XM_024450641.1:c.3496C>T	XP_024306409.1:p.Leu1166=
XM_024450642.1:c.3451C>T	XP_024306410.1:p.Leu1151=
XM_024450643.1:c.3406C>T	XP_024306411.1:p.Leu1136=
NM_001005862.3:c.3268C>T	NP_001005862.1:p.Leu1090=
NM_001289936.2:c.3313C>T	NP_001276865.1:p.Leu1105=
NM_001289937.2:c.3160-196C>T	NP_001276866.1:n.3160-196C>T
NM_001382782.1:c.3268C>T	NP_001369711.1:p.Leu1090=
NM_001382783.1:c.3268C>T	NP_001369712.1:p.Leu1090=
NM_001382784.1:c.3475C>T	NP_001369713.1:p.Leu1159=
NM_001382785.1:c.3460C>T	NP_001369714.1:p.Leu1154=
NM_001382786.1:c.3439C>T	NP_001369715.1:p.Leu1147=
NM_001382787.1:c.3433C>T	NP_001369716.1:p.Leu1145=
NM_001382788.1:c.3388C>T	NP_001369717.1:p.Leu1130=
NM_001382789.1:c.3379C>T	NP_001369718.1:p.Leu1127=
NM_001382790.1:c.3355C>T	NP_001369719.1:p.Leu1119=
NM_001382791.1:c.3349C>T	NP_001369720.1:p.Leu1117=
NM_001382792.1:c.3322C>T	NP_001369721.1:p.Leu1108=
NM_001382793.1:c.3316C>T	NP_001369722.1:p.Leu1106=
NM_001382794.1:c.3316C>T	NP_001369723.1:p.Leu1106=
NM_001382795.1:c.3310C>T	NP_001369724.1:p.Leu1104=
NM_001382796.1:c.3271C>T	NP_001369725.1:p.Leu1091=
NM_001382797.1:c.3259C>T	NP_001369726.1:p.Leu1087=
NM_001382798.1:c.3202C>T	NP_001369727.1:p.Leu1068=
NM_001382799.1:c.3178C>T	NP_001369728.1:p.Leu1060=
NM_001382800.1:c.3172C>T	NP_001369729.1:p.Leu1058=
NM_001382801.1:c.3154C>T	NP_001369730.1:p.Leu1052=
NM_001382802.1:c.3100C>T	NP_001369731.1:p.Leu1034=
NM_001382803.1:c.3118-196C>T	NP_001369732.1:n.3118-196C>T
NM_001382804.1:c.2530C>T	NP_001369733.1:p.Leu844=
NM_001382805.1:c.2407C>T	NP_001369734.1:p.Leu803=
NM_001382806.1:c.2320C>T	NP_001369735.1:p.Leu774=
NM_004448.4:c.3358C>T MANE Select	NP_004439.2:p.Leu1120=
NR_110535.2:n.3596C>T