Canonical Allele Identifier: CA399314442

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37884200A>C (hg19) ; chr17:g.39727947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727947A>C , CM000679.2:g.39727947A>C	GRCh38
NC_000017.10:g.37884200A>C , CM000679.1:g.37884200A>C	GRCh37
NC_000017.9:g.35137726A>C	NCBI36
NG_007503.1:g.44808A>C , LRG_724:g.44808A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3671A>C MANE Select	ENSP00000269571.4:p.Asp1224Ala
ENST00000269571.9:c.3671A>C	ENSP00000269571.4:p.Asp1224Ala
ENST00000406381.6:c.3581A>C	ENSP00000385185.2:p.Asp1194Ala
ENST00000445658.6:c.2843A>C	ENSP00000404047.2:p.Asp948Ala
ENST00000541774.5:c.3626A>C	ENSP00000446466.1:p.Asp1209Ala
ENST00000578373.5:c.*3461A>C	ENSP00000463427.1:n.*3461A>C
ENST00000584450.5:c.*250A>C	ENSP00000463714.1:n.*250A>C
ENST00000584601.5:c.3581A>C	ENSP00000462438.1:p.Asp1194Ala
NM_001005862.2:c.3581A>C , LRG_724t1:c.3581A>C	NP_001005862.1:p.Asp1194Ala
NM_001289936.1:c.3626A>C , LRG_724t4:c.3626A>C	NP_001276865.1:p.Asp1209Ala
NM_001289937.1:c.*250A>C	NP_001276866.1:n.*250A>C
NM_004448.3:c.3671A>C , LRG_724t2:c.3671A>C	NP_004439.2:p.Asp1224Ala
NR_110535.1:n.3995A>C
XM_024450641.1:c.3809A>C	XP_024306409.1:p.Asp1270Ala
XM_024450642.1:c.3764A>C	XP_024306410.1:p.Asp1255Ala
XM_024450643.1:c.3719A>C	XP_024306411.1:p.Asp1240Ala
NM_001005862.3:c.3581A>C	NP_001005862.1:p.Asp1194Ala
NM_001289936.2:c.3626A>C	NP_001276865.1:p.Asp1209Ala
NM_001289937.2:c.*250A>C	NP_001276866.1:n.*250A>C
NM_001382782.1:c.3581A>C	NP_001369711.1:p.Asp1194Ala
NM_001382783.1:c.3581A>C	NP_001369712.1:p.Asp1194Ala
NM_001382784.1:c.3788A>C	NP_001369713.1:p.Asp1263Ala
NM_001382785.1:c.3773A>C	NP_001369714.1:p.Asp1258Ala
NM_001382786.1:c.3752A>C	NP_001369715.1:p.Asp1251Ala
NM_001382787.1:c.3746A>C	NP_001369716.1:p.Asp1249Ala
NM_001382788.1:c.3701A>C	NP_001369717.1:p.Asp1234Ala
NM_001382789.1:c.3692A>C	NP_001369718.1:p.Asp1231Ala
NM_001382790.1:c.3668A>C	NP_001369719.1:p.Asp1223Ala
NM_001382791.1:c.3662A>C	NP_001369720.1:p.Asp1221Ala
NM_001382792.1:c.3635A>C	NP_001369721.1:p.Asp1212Ala
NM_001382793.1:c.3629A>C	NP_001369722.1:p.Asp1210Ala
NM_001382794.1:c.3629A>C	NP_001369723.1:p.Asp1210Ala
NM_001382795.1:c.3623A>C	NP_001369724.1:p.Asp1208Ala
NM_001382796.1:c.3584A>C	NP_001369725.1:p.Asp1195Ala
NM_001382797.1:c.3572A>C	NP_001369726.1:p.Asp1191Ala
NM_001382798.1:c.3515A>C	NP_001369727.1:p.Asp1172Ala
NM_001382799.1:c.3491A>C	NP_001369728.1:p.Asp1164Ala
NM_001382800.1:c.3485A>C	NP_001369729.1:p.Asp1162Ala
NM_001382801.1:c.3467A>C	NP_001369730.1:p.Asp1156Ala
NM_001382802.1:c.3413A>C	NP_001369731.1:p.Asp1138Ala
NM_001382803.1:c.*250A>C	NP_001369732.1:n.*250A>C
NM_001382804.1:c.2843A>C	NP_001369733.1:p.Asp948Ala
NM_001382805.1:c.2720A>C	NP_001369734.1:p.Asp907Ala
NM_001382806.1:c.2633A>C	NP_001369735.1:p.Asp878Ala
NM_004448.4:c.3671A>C MANE Select	NP_004439.2:p.Asp1224Ala
NR_110535.2:n.3909A>C