Canonical Allele Identifier: CA11296320
Gene: NPAS2 HGNC NCBI

Linked Data

dbSNP Id: rs13025524
gnomAD v2: 2-101550181-G-A
gnomAD v3: 2-100933719-G-A
gnomAD v4: 2-100933719-G-A
MyVariant Identifiers: chr2:g.101550181G>A (hg19) chr2:g.100933719G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.100933719G>A , CM000664.2:g.100933719G>A GRCh38
NC_000002.11:g.101550181G>A , CM000664.1:g.101550181G>A GRCh37
NC_000002.10:g.100916613G>A NCBI36
NG_023259.1:g.118569G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000335681.10:c.273+718G>A MANE Select ENSP00000338283.5:n.273+718G>A
ENST00000335681.9:c.273+718G>A ENSP00000338283.5:n.273+718G>A
ENST00000427413.5:c.468+718G>A ENSP00000397595.2:n.468+718G>A
ENST00000448812.5:c.241+718G>A
ENST00000451740.1:c.231+718G>A ENSP00000395265.1:n.231+718G>A
ENST00000486017.5:n.241+718G>A
NM_002518.3:c.273+718G>A NP_002509.2:n.273+718G>A
XM_005263953.1:c.468+718G>A XP_005264010.1:n.468+718G>A
XM_005263954.1:c.468+718G>A XP_005264011.1:n.468+718G>A
XM_005263957.1:c.468+718G>A XP_005264014.1:n.468+718G>A
XM_005263959.1:c.468+718G>A XP_005264016.1:n.468+718G>A
XM_005263960.1:c.468+718G>A XP_005264017.1:n.468+718G>A
XM_005263961.3:c.-372+718G>A XP_005264018.1:n.-372+718G>A
XM_011511242.1:c.273+718G>A XP_011509544.1:n.273+718G>A
XM_011511243.1:c.468+718G>A XP_011509545.1:n.468+718G>A
XR_922928.1:n.470+718G>A
XM_005263953.2:c.468+718G>A XP_005264010.1:n.468+718G>A
XM_005263959.2:c.468+718G>A XP_005264016.1:n.468+718G>A
XM_005263960.2:c.468+718G>A XP_005264017.1:n.468+718G>A
XM_005263961.4:c.-372+718G>A XP_005264018.1:n.-372+718G>A
XM_011511242.2:c.273+718G>A XP_011509544.1:n.273+718G>A
XM_011511243.2:c.468+718G>A XP_011509545.1:n.468+718G>A
XM_017004214.1:c.468+718G>A XP_016859703.1:n.468+718G>A
XM_017004215.1:c.468+718G>A XP_016859704.1:n.468+718G>A
XM_017004216.1:c.468+718G>A XP_016859705.1:n.468+718G>A
XM_017004217.1:c.468+718G>A XP_016859706.1:n.468+718G>A
NM_002518.4:c.273+718G>A MANE Select NP_002509.2:n.273+718G>A
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