Canonical Allele Identifier: CA11295305
Gene: NPAS2 HGNC NCBI
COSMIC:
COSN6670770 (not active)
MyVariant.info:
GRCh38 chr2:g.100941104G>A
GRCh37 chr2:g.101557566G>A
gnomAD v2:
2:101557566 G / A
gnomAD v3:
2:100941104 G / A
gnomAD v4:
chr2-100941104-G-A
Joint Max Group AF 0.42408265 (MID)
Genomes Max Group AF 0.35739716 (NFE)
dbSNP:
11674199
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.100941104G>A , CM000664.2:g.100941104G>A GRCh38
NC_000002.11:g.101557566G>A , CM000664.1:g.101557566G>A GRCh37
NC_000002.10:g.100923998G>A NCBI36
NG_023259.1:g.125954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335681.10:c.363+3262G>A MANE Select ENSP00000338283.5:n.363+3262G>A
ENST00000335681.9:c.363+3262G>A ENSP00000338283.5:n.363+3262G>A
ENST00000427413.5:c.558+3262G>A ENSP00000397595.2:n.558+3262G>A
ENST00000448812.5:c.331+3262G>A
ENST00000486017.5:n.331+3262G>A
ENST00000492373.1:n.140+3262G>A
NM_002518.3:c.363+3262G>A NP_002509.2:n.363+3262G>A
XM_005263953.1:c.558+3262G>A XP_005264010.1:n.558+3262G>A
XM_005263954.1:c.558+3262G>A XP_005264011.1:n.558+3262G>A
XM_005263957.1:c.558+3262G>A XP_005264014.1:n.558+3262G>A
XM_005263959.1:c.558+3262G>A XP_005264016.1:n.558+3262G>A
XM_005263960.1:c.558+3262G>A XP_005264017.1:n.558+3262G>A
XM_005263961.3:c.-10+3262G>A XP_005264018.1:n.-10+3262G>A
XM_011511242.1:c.274-7131G>A XP_011509544.1:n.274-7131G>A
XM_011511243.1:c.558+3262G>A XP_011509545.1:n.558+3262G>A
XR_922928.1:n.560+3262G>A
XM_005263953.2:c.558+3262G>A XP_005264010.1:n.558+3262G>A
XM_005263959.2:c.558+3262G>A XP_005264016.1:n.558+3262G>A
XM_005263960.2:c.558+3262G>A XP_005264017.1:n.558+3262G>A
XM_005263961.4:c.-10+3262G>A XP_005264018.1:n.-10+3262G>A
XM_011511242.2:c.274-7131G>A XP_011509544.1:n.274-7131G>A
XM_011511243.2:c.558+3262G>A XP_011509545.1:n.558+3262G>A
XM_017004214.1:c.558+3262G>A XP_016859703.1:n.558+3262G>A
XM_017004215.1:c.558+3262G>A XP_016859704.1:n.558+3262G>A
XM_017004216.1:c.558+3262G>A XP_016859705.1:n.558+3262G>A
XM_017004217.1:c.558+3262G>A XP_016859706.1:n.558+3262G>A
NM_002518.4:c.363+3262G>A MANE Select NP_002509.2:n.363+3262G>A
Search 100 bp 5'
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