Canonical Allele Identifier: CA53168013

Gene: NPAS2

Linked Data

• dbSNP Id: rs1008271448
• gnomAD v3: 2-100862455-C-G
• gnomAD v4: 2-100862455-C-G
• MyVariant Identifiers: chr2:g.101478917C>G (hg19) ; chr2:g.100862455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.100862455C>G , CM000664.2:g.100862455C>G	GRCh38
NC_000002.11:g.101478917C>G , CM000664.1:g.101478917C>G	GRCh37
NC_000002.10:g.100845349C>G	NCBI36
NG_023259.1:g.47305C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000335681.10:c.-23+42041C>G MANE Select	ENSP00000338283.5:n.-23+42041C>G
ENST00000335681.9:c.-23+42041C>G	ENSP00000338283.5:n.-23+42041C>G
ENST00000427413.5:c.173+41256C>G	ENSP00000397595.2:n.173+41256C>G
NM_002518.3:c.-23+42041C>G	NP_002509.2:n.-23+42041C>G
XM_005263953.1:c.173+41256C>G	XP_005264010.1:n.173+41256C>G
XM_005263954.1:c.173+41256C>G	XP_005264011.1:n.173+41256C>G
XM_005263957.1:c.173+41256C>G	XP_005264014.1:n.173+41256C>G
XM_005263959.1:c.173+41256C>G	XP_005264016.1:n.173+41256C>G
XM_005263960.1:c.173+41256C>G	XP_005264017.1:n.173+41256C>G
XM_011511242.1:c.-23+42041C>G	XP_011509544.1:n.-23+42041C>G
XM_011511243.1:c.173+41256C>G	XP_011509545.1:n.173+41256C>G
XR_922928.1:n.175+41256C>G
XM_005263953.2:c.173+41256C>G	XP_005264010.1:n.173+41256C>G
XM_005263959.2:c.173+41256C>G	XP_005264016.1:n.173+41256C>G
XM_005263960.2:c.173+41256C>G	XP_005264017.1:n.173+41256C>G
XM_011511242.2:c.-23+42041C>G	XP_011509544.1:n.-23+42041C>G
XM_011511243.2:c.173+41256C>G	XP_011509545.1:n.173+41256C>G
XM_017004214.1:c.173+41256C>G	XP_016859703.1:n.173+41256C>G
XM_017004215.1:c.173+41256C>G	XP_016859704.1:n.173+41256C>G
XM_017004216.1:c.173+41256C>G	XP_016859705.1:n.173+41256C>G
XM_017004217.1:c.173+41256C>G	XP_016859706.1:n.173+41256C>G
NM_002518.4:c.-23+42041C>G MANE Select	NP_002509.2:n.-23+42041C>G