Canonical Allele Identifier: CA2212715

Gene: PASK

Linked Data

• ClinVar Variation Id: 252572
• ClinVar RCV Id: RCV000238943 ; RCV001262585
• dbSNP Id: rs140030739
• ExAC: 2:242051654 C / T
• gnomAD v2: 2-242051654-C-T
• gnomAD v3: 2-241112239-C-T
• gnomAD v4: 2-241112239-C-T
• MyVariant Identifiers: chr2:g.242051654C>T (hg19) ; chr2:g.241112239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241112239C>T , CM000664.2:g.241112239C>T	GRCh38
NC_000002.11:g.242051654C>T , CM000664.1:g.242051654C>T	GRCh37
NC_000002.10:g.241700327C>T	NCBI36
NG_052850.1:g.43109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234040.9:c.3533+1G>A MANE Select	ENSP00000234040.5:n.3533+1G>A
ENST00000234040.8:c.3533+1G>A	ENSP00000234040.4:n.3533+1G>A
ENST00000358649.8:c.3554+1G>A	ENSP00000351475.4:n.3554+1G>A
ENST00000405260.5:c.3533+1G>A	ENSP00000384016.1:n.3533+1G>A
ENST00000475666.1:n.186+1G>A
ENST00000489256.5:n.547+1G>A
ENST00000544142.5:c.3533+1G>A	ENSP00000441374.2:n.3533+1G>A
NM_001252119.1:c.3554+1G>A	NP_001239048.1:n.3554+1G>A
NM_001252120.1:c.3533+1G>A	NP_001239049.1:n.3533+1G>A
NM_001252122.1:c.3428+1G>A	NP_001239051.1:n.3428+1G>A
NM_015148.3:c.3533+1G>A	NP_055963.2:n.3533+1G>A
XM_005246991.1:c.2885+1G>A	XP_005247048.1:n.2885+1G>A
XM_011510826.1:c.3629+1G>A	XP_011509128.1:n.3629+1G>A
XM_011510827.1:c.3608+1G>A	XP_011509129.1:n.3608+1G>A
XM_011510828.1:c.3554+1G>A	XP_011509130.1:n.3554+1G>A
XM_011510829.1:c.3554+1G>A	XP_011509131.1:n.3554+1G>A
XM_011510830.1:c.3554+1G>A	XP_011509132.1:n.3554+1G>A
XM_011510831.1:c.2996+1G>A	XP_011509133.1:n.2996+1G>A
XM_011510832.1:c.2975+1G>A	XP_011509134.1:n.2975+1G>A
XM_011510833.1:c.2906+1G>A	XP_011509135.1:n.2906+1G>A
XM_011510834.1:c.2396+1G>A	XP_011509136.1:n.2396+1G>A
XM_011510835.1:c.2183+1G>A	XP_011509137.1:n.2183+1G>A
XR_922893.1:n.3659+1G>A
XM_011510829.2:c.3554+1G>A	XP_011509131.1:n.3554+1G>A
XM_011510830.2:c.3554+1G>A	XP_011509132.1:n.3554+1G>A
XM_011510831.2:c.2996+1G>A	XP_011509133.1:n.2996+1G>A
XM_011510832.2:c.2975+1G>A	XP_011509134.1:n.2975+1G>A
XM_017003635.1:c.3533+1G>A	XP_016859124.1:n.3533+1G>A
XM_017003636.1:c.3533+1G>A	XP_016859125.1:n.3533+1G>A
XR_001738678.2:n.3679+1G>A
NM_001252119.2:c.3554+1G>A	NP_001239048.1:n.3554+1G>A
NM_001252122.2:c.3428+1G>A	NP_001239051.1:n.3428+1G>A
NM_015148.4:c.3533+1G>A MANE Select	NP_055963.2:n.3533+1G>A
NM_001252120.2:c.3533+1G>A	NP_001239049.1:n.3533+1G>A