Canonical Allele Identifier: CA320512662

Gene: ETS2

Linked Data

• dbSNP Id: rs934343681
• gnomAD v2: 21-40195517-TG-T
• gnomAD v3: 21-38823593-TG-T
• gnomAD v4: 21-38823593-TG-T
• MyVariant Identifiers: chr21:g.40195518del (hg19) ; chr21:g.38823594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.38823599del , CM000683.2:g.38823599del	GRCh38
NC_000021.8:g.40195523del , CM000683.1:g.40195523del	GRCh37
NC_000021.7:g.39117393del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360214.8:c.*710del	ENSP00000353344.3:n.*710del
ENST00000360938.8:c.*710del MANE Select	ENSP00000354194.3:n.*710del
ENST00000653642.1:c.*710del	ENSP00000499315.1:n.*710del
ENST00000662305.1:c.*710del	ENSP00000499226.1:n.*710del
ENST00000666778.1:c.*710del	ENSP00000499775.1:n.*710del
ENST00000667466.1:c.*710del	ENSP00000499540.1:n.*710del
ENST00000360214.7:c.*710del	ENSP00000353344.3:n.*710del
ENST00000360938.7:c.*710del	ENSP00000354194.3:n.*710del
NM_001256295.1:c.*710del	NP_001243224.1:n.*710del
NM_005239.5:c.*710del	NP_005230.1:n.*710del
XM_005260935.1:c.*710del	XP_005260992.1:n.*710del
XM_017028290.1:c.*710del	XP_016883779.1:n.*710del
NM_005239.6:c.*710del MANE Select	NP_005230.1:n.*710del
NM_001256295.2:c.*710del	NP_001243224.1:n.*710del