Canonical Allele Identifier: CA499890576

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143292032
• gnomAD v4: 17-39727745-C-T
• MyVariant Identifiers: chr17:g.37883998C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727745C>T , CM000679.2:g.39727745C>T	GRCh38
NC_000017.10:g.37883998C>T , CM000679.1:g.37883998C>T	GRCh37
NC_000017.9:g.35137524C>T	NCBI36
NG_007503.1:g.44606C>T , LRG_724:g.44606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3469C>T MANE Select	ENSP00000269571.4:p.Leu1157=
ENST00000269571.9:c.3469C>T	ENSP00000269571.4:p.Leu1157=
ENST00000406381.6:c.3379C>T	ENSP00000385185.2:p.Leu1127=
ENST00000445658.6:c.2641C>T	ENSP00000404047.2:p.Leu881=
ENST00000541774.5:c.3424C>T	ENSP00000446466.1:p.Leu1142=
ENST00000578373.5:c.*3259C>T	ENSP00000463427.1:n.*3259C>T
ENST00000584450.5:c.*48C>T	ENSP00000463714.1:n.*48C>T
ENST00000584601.5:c.3379C>T	ENSP00000462438.1:p.Leu1127=
NM_001005862.2:c.3379C>T , LRG_724t1:c.3379C>T	NP_001005862.1:p.Leu1127=
NM_001289936.1:c.3424C>T , LRG_724t4:c.3424C>T	NP_001276865.1:p.Leu1142=
NM_001289937.1:c.*48C>T	NP_001276866.1:n.*48C>T
NM_004448.3:c.3469C>T , LRG_724t2:c.3469C>T	NP_004439.2:p.Leu1157=
NR_110535.1:n.3793C>T
XM_024450641.1:c.3607C>T	XP_024306409.1:p.Leu1203=
XM_024450642.1:c.3562C>T	XP_024306410.1:p.Leu1188=
XM_024450643.1:c.3517C>T	XP_024306411.1:p.Leu1173=
NM_001005862.3:c.3379C>T	NP_001005862.1:p.Leu1127=
NM_001289936.2:c.3424C>T	NP_001276865.1:p.Leu1142=
NM_001289937.2:c.*48C>T	NP_001276866.1:n.*48C>T
NM_001382782.1:c.3379C>T	NP_001369711.1:p.Leu1127=
NM_001382783.1:c.3379C>T	NP_001369712.1:p.Leu1127=
NM_001382784.1:c.3586C>T	NP_001369713.1:p.Leu1196=
NM_001382785.1:c.3571C>T	NP_001369714.1:p.Leu1191=
NM_001382786.1:c.3550C>T	NP_001369715.1:p.Leu1184=
NM_001382787.1:c.3544C>T	NP_001369716.1:p.Leu1182=
NM_001382788.1:c.3499C>T	NP_001369717.1:p.Leu1167=
NM_001382789.1:c.3490C>T	NP_001369718.1:p.Leu1164=
NM_001382790.1:c.3466C>T	NP_001369719.1:p.Leu1156=
NM_001382791.1:c.3460C>T	NP_001369720.1:p.Leu1154=
NM_001382792.1:c.3433C>T	NP_001369721.1:p.Leu1145=
NM_001382793.1:c.3427C>T	NP_001369722.1:p.Leu1143=
NM_001382794.1:c.3427C>T	NP_001369723.1:p.Leu1143=
NM_001382795.1:c.3421C>T	NP_001369724.1:p.Leu1141=
NM_001382796.1:c.3382C>T	NP_001369725.1:p.Leu1128=
NM_001382797.1:c.3370C>T	NP_001369726.1:p.Leu1124=
NM_001382798.1:c.3313C>T	NP_001369727.1:p.Leu1105=
NM_001382799.1:c.3289C>T	NP_001369728.1:p.Leu1097=
NM_001382800.1:c.3283C>T	NP_001369729.1:p.Leu1095=
NM_001382801.1:c.3265C>T	NP_001369730.1:p.Leu1089=
NM_001382802.1:c.3211C>T	NP_001369731.1:p.Leu1071=
NM_001382803.1:c.*48C>T	NP_001369732.1:n.*48C>T
NM_001382804.1:c.2641C>T	NP_001369733.1:p.Leu881=
NM_001382805.1:c.2518C>T	NP_001369734.1:p.Leu840=
NM_001382806.1:c.2431C>T	NP_001369735.1:p.Leu811=
NM_004448.4:c.3469C>T MANE Select	NP_004439.2:p.Leu1157=
NR_110535.2:n.3707C>T