Canonical Allele Identifier: CA499890134

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059677440
• gnomAD v3: 17-39725111-G-C
• gnomAD v4: 17-39725111-G-C
• MyVariant Identifiers: chr17:g.37881364G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725111G>C , CM000679.2:g.39725111G>C	GRCh38
NC_000017.10:g.37881364G>C , CM000679.1:g.37881364G>C	GRCh37
NC_000017.9:g.35134890G>C	NCBI36
NG_007503.1:g.41972G>C , LRG_724:g.41972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2556G>C MANE Select	ENSP00000269571.4:p.Leu852=
ENST00000269571.9:c.2556G>C	ENSP00000269571.4:p.Leu852=
ENST00000406381.6:c.2466G>C	ENSP00000385185.2:p.Leu822=
ENST00000445658.6:c.1728G>C	ENSP00000404047.2:p.Leu576=
ENST00000541774.5:c.2511G>C	ENSP00000446466.1:p.Leu837=
ENST00000578373.5:c.*2346G>C	ENSP00000463427.1:n.*2346G>C
ENST00000580074.1:c.662G>C
ENST00000583038.5:n.3690G>C
ENST00000584450.5:c.2556G>C	ENSP00000463714.1:p.Leu852=
ENST00000584601.5:c.2466G>C	ENSP00000462438.1:p.Leu822=
NM_001005862.2:c.2466G>C , LRG_724t1:c.2466G>C	NP_001005862.1:p.Leu822=
NM_001289936.1:c.2511G>C , LRG_724t4:c.2511G>C	NP_001276865.1:p.Leu837=
NM_001289937.1:c.2556G>C	NP_001276866.1:p.Leu852=
NM_004448.3:c.2556G>C , LRG_724t2:c.2556G>C	NP_004439.2:p.Leu852=
NR_110535.1:n.2880G>C
XM_024450641.1:c.2694G>C	XP_024306409.1:p.Leu898=
XM_024450642.1:c.2649G>C	XP_024306410.1:p.Leu883=
XM_024450643.1:c.2604G>C	XP_024306411.1:p.Leu868=
NM_001005862.3:c.2466G>C	NP_001005862.1:p.Leu822=
NM_001289936.2:c.2511G>C	NP_001276865.1:p.Leu837=
NM_001289937.2:c.2556G>C	NP_001276866.1:p.Leu852=
NM_001382782.1:c.2466G>C	NP_001369711.1:p.Leu822=
NM_001382783.1:c.2466G>C	NP_001369712.1:p.Leu822=
NM_001382784.1:c.2673G>C	NP_001369713.1:p.Leu891=
NM_001382785.1:c.2658G>C	NP_001369714.1:p.Leu886=
NM_001382786.1:c.2637G>C	NP_001369715.1:p.Leu879=
NM_001382787.1:c.2631G>C	NP_001369716.1:p.Leu877=
NM_001382788.1:c.2586G>C	NP_001369717.1:p.Leu862=
NM_001382789.1:c.2577G>C	NP_001369718.1:p.Leu859=
NM_001382790.1:c.2553G>C	NP_001369719.1:p.Leu851=
NM_001382791.1:c.2547G>C	NP_001369720.1:p.Leu849=
NM_001382792.1:c.2520G>C	NP_001369721.1:p.Leu840=
NM_001382793.1:c.2514G>C	NP_001369722.1:p.Leu838=
NM_001382794.1:c.2514G>C	NP_001369723.1:p.Leu838=
NM_001382795.1:c.2508G>C	NP_001369724.1:p.Leu836=
NM_001382796.1:c.2556G>C	NP_001369725.1:p.Leu852=
NM_001382797.1:c.2457G>C	NP_001369726.1:p.Leu819=
NM_001382798.1:c.2493+200G>C	NP_001369727.1:n.2493+200G>C
NM_001382799.1:c.2376G>C	NP_001369728.1:p.Leu792=
NM_001382800.1:c.2370G>C	NP_001369729.1:p.Leu790=
NM_001382801.1:c.2445+200G>C	NP_001369730.1:n.2445+200G>C
NM_001382802.1:c.2298G>C	NP_001369731.1:p.Leu766=
NM_001382803.1:c.2514G>C	NP_001369732.1:p.Leu838=
NM_001382804.1:c.1728G>C	NP_001369733.1:p.Leu576=
NM_001382805.1:c.2208+1451G>C	NP_001369734.1:n.2208+1451G>C
NM_001382806.1:c.1518G>C	NP_001369735.1:p.Leu506=
NM_004448.4:c.2556G>C MANE Select	NP_004439.2:p.Leu852=
NR_110535.2:n.2794G>C