Canonical Allele Identifier: CA399314336

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143312632
• gnomAD v4: 17-39727935-T-C
• MyVariant Identifiers: chr17:g.37884188T>C (hg19) ; chr17:g.39727935T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727935T>C , CM000679.2:g.39727935T>C	GRCh38
NC_000017.10:g.37884188T>C , CM000679.1:g.37884188T>C	GRCh37
NC_000017.9:g.35137714T>C	NCBI36
NG_007503.1:g.44796T>C , LRG_724:g.44796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3659T>C MANE Select	ENSP00000269571.4:p.Leu1220Pro
ENST00000269571.9:c.3659T>C	ENSP00000269571.4:p.Leu1220Pro
ENST00000406381.6:c.3569T>C	ENSP00000385185.2:p.Leu1190Pro
ENST00000445658.6:c.2831T>C	ENSP00000404047.2:p.Leu944Pro
ENST00000541774.5:c.3614T>C	ENSP00000446466.1:p.Leu1205Pro
ENST00000578373.5:c.*3449T>C	ENSP00000463427.1:n.*3449T>C
ENST00000584450.5:c.*238T>C	ENSP00000463714.1:n.*238T>C
ENST00000584601.5:c.3569T>C	ENSP00000462438.1:p.Leu1190Pro
NM_001005862.2:c.3569T>C , LRG_724t1:c.3569T>C	NP_001005862.1:p.Leu1190Pro
NM_001289936.1:c.3614T>C , LRG_724t4:c.3614T>C	NP_001276865.1:p.Leu1205Pro
NM_001289937.1:c.*238T>C	NP_001276866.1:n.*238T>C
NM_004448.3:c.3659T>C , LRG_724t2:c.3659T>C	NP_004439.2:p.Leu1220Pro
NR_110535.1:n.3983T>C
XM_024450641.1:c.3797T>C	XP_024306409.1:p.Leu1266Pro
XM_024450642.1:c.3752T>C	XP_024306410.1:p.Leu1251Pro
XM_024450643.1:c.3707T>C	XP_024306411.1:p.Leu1236Pro
NM_001005862.3:c.3569T>C	NP_001005862.1:p.Leu1190Pro
NM_001289936.2:c.3614T>C	NP_001276865.1:p.Leu1205Pro
NM_001289937.2:c.*238T>C	NP_001276866.1:n.*238T>C
NM_001382782.1:c.3569T>C	NP_001369711.1:p.Leu1190Pro
NM_001382783.1:c.3569T>C	NP_001369712.1:p.Leu1190Pro
NM_001382784.1:c.3776T>C	NP_001369713.1:p.Leu1259Pro
NM_001382785.1:c.3761T>C	NP_001369714.1:p.Leu1254Pro
NM_001382786.1:c.3740T>C	NP_001369715.1:p.Leu1247Pro
NM_001382787.1:c.3734T>C	NP_001369716.1:p.Leu1245Pro
NM_001382788.1:c.3689T>C	NP_001369717.1:p.Leu1230Pro
NM_001382789.1:c.3680T>C	NP_001369718.1:p.Leu1227Pro
NM_001382790.1:c.3656T>C	NP_001369719.1:p.Leu1219Pro
NM_001382791.1:c.3650T>C	NP_001369720.1:p.Leu1217Pro
NM_001382792.1:c.3623T>C	NP_001369721.1:p.Leu1208Pro
NM_001382793.1:c.3617T>C	NP_001369722.1:p.Leu1206Pro
NM_001382794.1:c.3617T>C	NP_001369723.1:p.Leu1206Pro
NM_001382795.1:c.3611T>C	NP_001369724.1:p.Leu1204Pro
NM_001382796.1:c.3572T>C	NP_001369725.1:p.Leu1191Pro
NM_001382797.1:c.3560T>C	NP_001369726.1:p.Leu1187Pro
NM_001382798.1:c.3503T>C	NP_001369727.1:p.Leu1168Pro
NM_001382799.1:c.3479T>C	NP_001369728.1:p.Leu1160Pro
NM_001382800.1:c.3473T>C	NP_001369729.1:p.Leu1158Pro
NM_001382801.1:c.3455T>C	NP_001369730.1:p.Leu1152Pro
NM_001382802.1:c.3401T>C	NP_001369731.1:p.Leu1134Pro
NM_001382803.1:c.*238T>C	NP_001369732.1:n.*238T>C
NM_001382804.1:c.2831T>C	NP_001369733.1:p.Leu944Pro
NM_001382805.1:c.2708T>C	NP_001369734.1:p.Leu903Pro
NM_001382806.1:c.2621T>C	NP_001369735.1:p.Leu874Pro
NM_004448.4:c.3659T>C MANE Select	NP_004439.2:p.Leu1220Pro
NR_110535.2:n.3897T>C