Canonical Allele Identifier: CA399314519

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143314649
• gnomAD v4: 17-39727958-C-T
• MyVariant Identifiers: chr17:g.37884211C>T (hg19) ; chr17:g.39727958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727958C>T , CM000679.2:g.39727958C>T	GRCh38
NC_000017.10:g.37884211C>T , CM000679.1:g.37884211C>T	GRCh37
NC_000017.9:g.35137737C>T	NCBI36
NG_007503.1:g.44819C>T , LRG_724:g.44819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3682C>T MANE Select	ENSP00000269571.4:p.Pro1228Ser
ENST00000269571.9:c.3682C>T	ENSP00000269571.4:p.Pro1228Ser
ENST00000406381.6:c.3592C>T	ENSP00000385185.2:p.Pro1198Ser
ENST00000445658.6:c.2854C>T	ENSP00000404047.2:p.Pro952Ser
ENST00000541774.5:c.3637C>T	ENSP00000446466.1:p.Pro1213Ser
ENST00000578373.5:c.*3472C>T	ENSP00000463427.1:n.*3472C>T
ENST00000584450.5:c.*261C>T	ENSP00000463714.1:n.*261C>T
ENST00000584601.5:c.3592C>T	ENSP00000462438.1:p.Pro1198Ser
NM_001005862.2:c.3592C>T , LRG_724t1:c.3592C>T	NP_001005862.1:p.Pro1198Ser
NM_001289936.1:c.3637C>T , LRG_724t4:c.3637C>T	NP_001276865.1:p.Pro1213Ser
NM_001289937.1:c.*261C>T	NP_001276866.1:n.*261C>T
NM_004448.3:c.3682C>T , LRG_724t2:c.3682C>T	NP_004439.2:p.Pro1228Ser
NR_110535.1:n.4006C>T
XM_024450641.1:c.3820C>T	XP_024306409.1:p.Pro1274Ser
XM_024450642.1:c.3775C>T	XP_024306410.1:p.Pro1259Ser
XM_024450643.1:c.3730C>T	XP_024306411.1:p.Pro1244Ser
NM_001005862.3:c.3592C>T	NP_001005862.1:p.Pro1198Ser
NM_001289936.2:c.3637C>T	NP_001276865.1:p.Pro1213Ser
NM_001289937.2:c.*261C>T	NP_001276866.1:n.*261C>T
NM_001382782.1:c.3592C>T	NP_001369711.1:p.Pro1198Ser
NM_001382783.1:c.3592C>T	NP_001369712.1:p.Pro1198Ser
NM_001382784.1:c.3799C>T	NP_001369713.1:p.Pro1267Ser
NM_001382785.1:c.3784C>T	NP_001369714.1:p.Pro1262Ser
NM_001382786.1:c.3763C>T	NP_001369715.1:p.Pro1255Ser
NM_001382787.1:c.3757C>T	NP_001369716.1:p.Pro1253Ser
NM_001382788.1:c.3712C>T	NP_001369717.1:p.Pro1238Ser
NM_001382789.1:c.3703C>T	NP_001369718.1:p.Pro1235Ser
NM_001382790.1:c.3679C>T	NP_001369719.1:p.Pro1227Ser
NM_001382791.1:c.3673C>T	NP_001369720.1:p.Pro1225Ser
NM_001382792.1:c.3646C>T	NP_001369721.1:p.Pro1216Ser
NM_001382793.1:c.3640C>T	NP_001369722.1:p.Pro1214Ser
NM_001382794.1:c.3640C>T	NP_001369723.1:p.Pro1214Ser
NM_001382795.1:c.3634C>T	NP_001369724.1:p.Pro1212Ser
NM_001382796.1:c.3595C>T	NP_001369725.1:p.Pro1199Ser
NM_001382797.1:c.3583C>T	NP_001369726.1:p.Pro1195Ser
NM_001382798.1:c.3526C>T	NP_001369727.1:p.Pro1176Ser
NM_001382799.1:c.3502C>T	NP_001369728.1:p.Pro1168Ser
NM_001382800.1:c.3496C>T	NP_001369729.1:p.Pro1166Ser
NM_001382801.1:c.3478C>T	NP_001369730.1:p.Pro1160Ser
NM_001382802.1:c.3424C>T	NP_001369731.1:p.Pro1142Ser
NM_001382803.1:c.*261C>T	NP_001369732.1:n.*261C>T
NM_001382804.1:c.2854C>T	NP_001369733.1:p.Pro952Ser
NM_001382805.1:c.2731C>T	NP_001369734.1:p.Pro911Ser
NM_001382806.1:c.2644C>T	NP_001369735.1:p.Pro882Ser
NM_004448.4:c.3682C>T MANE Select	NP_004439.2:p.Pro1228Ser
NR_110535.2:n.3920C>T