Canonical Allele Identifier: CA1896850

Gene: KYNU

Linked Data

• ClinVar Variation Id: 791085
• ClinVar RCV Id: RCV000974004
• dbSNP Id: rs191359593
• ExAC: 2:143742760 G / A
• gnomAD v2: 2-143742760-G-A
• gnomAD v3: 2-142985191-G-A
• gnomAD v4: 2-142985191-G-A
• MyVariant Identifiers: chr2:g.143742760G>A (hg19) ; chr2:g.142985191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.142985191G>A , CM000664.2:g.142985191G>A	GRCh38
NC_000002.11:g.143742760G>A , CM000664.1:g.143742760G>A	GRCh37
NC_000002.10:g.143459230G>A	NCBI36
NG_023254.1:g.112566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264170.9:c.828+9G>A MANE Select	ENSP00000264170.4:n.828+9G>A
ENST00000264170.8:c.828+9G>A	ENSP00000264170.4:n.828+9G>A
ENST00000375773.6:c.828+9G>A	ENSP00000364928.2:n.828+9G>A
ENST00000409512.5:c.828+9G>A	ENSP00000386731.1:n.828+9G>A
NM_001032998.1:c.828+9G>A	NP_001028170.1:n.828+9G>A
NM_001199241.1:c.828+9G>A	NP_001186170.1:n.828+9G>A
NM_003937.2:c.828+9G>A	NP_003928.1:n.828+9G>A
XM_011512101.1:c.828+9G>A	XP_011510403.1:n.828+9G>A
XM_011512102.1:c.429+9G>A	XP_011510404.1:n.429+9G>A
XM_011512103.1:c.429+9G>A	XP_011510405.1:n.429+9G>A
XM_011512104.1:c.429+9G>A	XP_011510406.1:n.429+9G>A
XM_011512105.1:c.429+9G>A	XP_011510407.1:n.429+9G>A
XR_923058.1:n.920+9G>A
XM_011512102.2:c.429+9G>A	XP_011510404.1:n.429+9G>A
XM_017005217.1:c.828+9G>A	XP_016860706.1:n.828+9G>A
XM_024453208.1:c.828+9G>A	XP_024308976.1:n.828+9G>A
NM_003937.3:c.828+9G>A MANE Select	NP_003928.1:n.828+9G>A
NM_001032998.2:c.828+9G>A	NP_001028170.1:n.828+9G>A
NM_001199241.2:c.828+9G>A	NP_001186170.1:n.828+9G>A