Canonical Allele Identifier: CA347913722
Gene: NPAS2 HGNC NCBI
NPAS2-AS1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.100975538C>A , CM000664.2:g.100975538C>A GRCh38
NC_000002.11:g.101592000C>A , CM000664.1:g.101592000C>A GRCh37
NC_000002.10:g.100958432C>A NCBI36
NG_023259.1:g.160388C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335681.10:c.1363C>A (NPAS2) MANE Select ENSP00000338283.5:p.Pro455Thr
ENST00000335681.9:c.1363C>A (NPAS2) ENSP00000338283.5:p.Pro455Thr
ENST00000450763.1:c.160C>A (NPAS2) ENSP00000392125.1:p.Pro54Thr
ENST00000471974.1:n.223C>A (NPAS2)
ENST00000474550.5:n.697C>A (NPAS2)
NM_002518.3:c.1363C>A (NPAS2) NP_002509.2:p.Pro455Thr
NR_110213.1:n.447-125G>T (NPAS2-AS1)
XM_005263953.1:c.1558C>A (NPAS2) XP_005264010.1:p.Pro520Thr
XM_005263954.1:c.1558C>A (NPAS2) XP_005264011.1:p.Pro520Thr
XM_005263957.1:c.1444C>A (NPAS2) XP_005264014.1:p.Pro482Thr
XM_005263959.1:c.1558C>A (NPAS2) XP_005264016.1:p.Pro520Thr
XM_005263960.1:c.1249C>A (NPAS2) XP_005264017.1:p.Pro417Thr
XM_005263961.3:c.991C>A (NPAS2) XP_005264018.1:p.Pro331Thr
XM_011511242.1:c.1273C>A (NPAS2) XP_011509544.1:p.Pro425Thr
XM_011511243.1:c.1558C>A (NPAS2) XP_011509545.1:p.Pro520Thr
XR_922928.1:n.1560C>A (NPAS2)
XM_005263953.2:c.1558C>A (NPAS2) XP_005264010.1:p.Pro520Thr
XM_005263959.2:c.1558C>A (NPAS2) XP_005264016.1:p.Pro520Thr
XM_005263960.2:c.1249C>A (NPAS2) XP_005264017.1:p.Pro417Thr
XM_005263961.4:c.991C>A (NPAS2) XP_005264018.1:p.Pro331Thr
XM_011511242.2:c.1273C>A (NPAS2) XP_011509544.1:p.Pro425Thr
XM_011511243.2:c.1558C>A (NPAS2) XP_011509545.1:p.Pro520Thr
XM_017004214.1:c.1558C>A (NPAS2) XP_016859703.1:p.Pro520Thr
XM_017004215.1:c.1558C>A (NPAS2) XP_016859704.1:p.Pro520Thr
XM_017004216.1:c.1558C>A (NPAS2) XP_016859705.1:p.Pro520Thr
XM_017004217.1:c.1249C>A (NPAS2) XP_016859706.1:p.Pro417Thr
NM_002518.4:c.1363C>A (NPAS2) MANE Select NP_002509.2:p.Pro455Thr