Canonical Allele Identifier: CA11021989
Gene: NPAS2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.100964784C>T , CM000664.2:g.100964784C>T GRCh38
NC_000002.11:g.101581246C>T , CM000664.1:g.101581246C>T GRCh37
NC_000002.10:g.100947678C>T NCBI36
NG_023259.1:g.149634C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335681.10:c.718-77C>T MANE Select ENSP00000338283.5:n.718-77C>T
ENST00000335681.9:c.718-77C>T ENSP00000338283.5:n.718-77C>T
ENST00000448812.5:c.567-3497C>T
ENST00000492373.1:n.495-77C>T
NM_002518.3:c.718-77C>T NP_002509.2:n.718-77C>T
XM_005263953.1:c.913-77C>T XP_005264010.1:n.913-77C>T
XM_005263954.1:c.913-77C>T XP_005264011.1:n.913-77C>T
XM_005263957.1:c.799-77C>T XP_005264014.1:n.799-77C>T
XM_005263959.1:c.913-77C>T XP_005264016.1:n.913-77C>T
XM_005263960.1:c.794-3497C>T XP_005264017.1:n.794-3497C>T
XM_005263961.3:c.346-77C>T XP_005264018.1:n.346-77C>T
XM_011511242.1:c.628-77C>T XP_011509544.1:n.628-77C>T
XM_011511243.1:c.913-77C>T XP_011509545.1:n.913-77C>T
XR_922928.1:n.915-77C>T
XM_005263953.2:c.913-77C>T XP_005264010.1:n.913-77C>T
XM_005263959.2:c.913-77C>T XP_005264016.1:n.913-77C>T
XM_005263960.2:c.794-3497C>T XP_005264017.1:n.794-3497C>T
XM_005263961.4:c.346-77C>T XP_005264018.1:n.346-77C>T
XM_011511242.2:c.628-77C>T XP_011509544.1:n.628-77C>T
XM_011511243.2:c.913-77C>T XP_011509545.1:n.913-77C>T
XM_017004214.1:c.913-77C>T XP_016859703.1:n.913-77C>T
XM_017004215.1:c.913-77C>T XP_016859704.1:n.913-77C>T
XM_017004216.1:c.913-77C>T XP_016859705.1:n.913-77C>T
XM_017004217.1:c.794-3497C>T XP_016859706.1:n.794-3497C>T
NM_002518.4:c.718-77C>T MANE Select NP_002509.2:n.718-77C>T