Canonical Allele Identifier: CA203012119

Gene: CELF2

Linked Data

• dbSNP Id: rs117619213
• gnomAD v2: 10-10601745-C-T
• gnomAD v3: 10-10559782-C-T
• gnomAD v4: 10-10559782-C-T
• MyVariant Identifiers: chr10:g.10601745C>T (hg19) ; chr10:g.10559782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.10559782C>T , CM000672.2:g.10559782C>T	GRCh38
NC_000010.10:g.10601745C>T , CM000672.1:g.10601745C>T	GRCh37
NC_000010.9:g.10641751C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001326317.1:c.-95+97196C>T	NP_001313246.1:n.-95+97196C>T
NM_001326318.1:c.-95+97196C>T	NP_001313247.1:n.-95+97196C>T
NM_001326319.1:c.-133+97196C>T	NP_001313248.1:n.-133+97196C>T
NM_001326320.1:c.-189+97196C>T	NP_001313249.1:n.-189+97196C>T
NM_001326321.1:c.-95+97196C>T	NP_001313250.1:n.-95+97196C>T
NM_001326323.1:c.-189+97196C>T	NP_001313252.1:n.-189+97196C>T
XM_017015557.1:c.-273+97196C>T	XP_016871046.1:n.-273+97196C>T
XM_017015568.2:c.-627+97196C>T	XP_016871057.1:n.-627+97196C>T
NM_001326317.2:c.-95+97196C>T	NP_001313246.1:n.-95+97196C>T
NM_001326318.2:c.-95+97196C>T	NP_001313247.1:n.-95+97196C>T
NM_001326319.2:c.-133+97196C>T	NP_001313248.1:n.-133+97196C>T
NM_001326320.2:c.-189+97196C>T	NP_001313249.1:n.-189+97196C>T
NM_001326321.2:c.-95+97196C>T	NP_001313250.1:n.-95+97196C>T
NM_001326323.2:c.-189+97196C>T	NP_001313252.1:n.-189+97196C>T