Canonical Allele Identifier: CA11076323
Gene: NPAS2 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.100905804C>T , CM000664.2:g.100905804C>T GRCh38
NC_000002.11:g.101522266C>T , CM000664.1:g.101522266C>T GRCh37
NC_000002.10:g.100888698C>T NCBI36
NG_023259.1:g.90654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335681.10:c.32+1018C>T MANE Select ENSP00000338283.5:n.32+1018C>T
ENST00000335681.9:c.32+1018C>T ENSP00000338283.5:n.32+1018C>T
ENST00000427413.5:c.227+1018C>T ENSP00000397595.2:n.227+1018C>T
NM_002518.3:c.32+1018C>T NP_002509.2:n.32+1018C>T
XM_005263953.1:c.227+1018C>T XP_005264010.1:n.227+1018C>T
XM_005263954.1:c.227+1018C>T XP_005264011.1:n.227+1018C>T
XM_005263957.1:c.227+1018C>T XP_005264014.1:n.227+1018C>T
XM_005263959.1:c.227+1018C>T XP_005264016.1:n.227+1018C>T
XM_005263960.1:c.227+1018C>T XP_005264017.1:n.227+1018C>T
XM_011511242.1:c.32+1018C>T XP_011509544.1:n.32+1018C>T
XM_011511243.1:c.227+1018C>T XP_011509545.1:n.227+1018C>T
XR_922928.1:n.229+1018C>T
XM_005263953.2:c.227+1018C>T XP_005264010.1:n.227+1018C>T
XM_005263959.2:c.227+1018C>T XP_005264016.1:n.227+1018C>T
XM_005263960.2:c.227+1018C>T XP_005264017.1:n.227+1018C>T
XM_011511242.2:c.32+1018C>T XP_011509544.1:n.32+1018C>T
XM_011511243.2:c.227+1018C>T XP_011509545.1:n.227+1018C>T
XM_017004214.1:c.227+1018C>T XP_016859703.1:n.227+1018C>T
XM_017004215.1:c.227+1018C>T XP_016859704.1:n.227+1018C>T
XM_017004216.1:c.227+1018C>T XP_016859705.1:n.227+1018C>T
XM_017004217.1:c.227+1018C>T XP_016859706.1:n.227+1018C>T
NM_002518.4:c.32+1018C>T MANE Select NP_002509.2:n.32+1018C>T