Canonical Allele Identifier: CA637810172

Gene: ETS2

Linked Data

• dbSNP Id: rs1197192519
• gnomAD v2: 21-40194093-C-CA
• gnomAD v3: 21-38822169-C-CA
• gnomAD v4: 21-38822169-C-CA
• MyVariant Identifiers: chr21:g.40194093_40194094insA (hg19) ; chr21:g.38822169_38822170insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.38822171dup , CM000683.2:g.38822171dup	GRCh38
NC_000021.8:g.40194095dup , CM000683.1:g.40194095dup	GRCh37
NC_000021.7:g.39115965dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360214.8:c.1194+467dup	ENSP00000353344.3:n.1194+467dup
ENST00000360938.8:c.1194+467dup MANE Select	ENSP00000354194.3:n.1194+467dup
ENST00000653642.1:c.1194+467dup	ENSP00000499315.1:n.1194+467dup
ENST00000662305.1:c.1194+467dup	ENSP00000499226.1:n.1194+467dup
ENST00000666778.1:c.1194+467dup	ENSP00000499775.1:n.1194+467dup
ENST00000667466.1:c.1299+467dup	ENSP00000499540.1:n.1299+467dup
ENST00000360214.7:c.1194+467dup	ENSP00000353344.3:n.1194+467dup
ENST00000360938.7:c.1194+467dup	ENSP00000354194.3:n.1194+467dup
NM_001256295.1:c.1614+467dup	NP_001243224.1:n.1614+467dup
NM_005239.5:c.1194+467dup	NP_005230.1:n.1194+467dup
XM_005260935.1:c.1194+467dup	XP_005260992.1:n.1194+467dup
XM_017028290.1:c.1194+467dup	XP_016883779.1:n.1194+467dup
NM_005239.6:c.1194+467dup MANE Select	NP_005230.1:n.1194+467dup
NM_001256295.2:c.1614+467dup	NP_001243224.1:n.1614+467dup