Canonical Allele Identifier: CA53167995

Gene: NPAS2

Linked Data

• dbSNP Id: rs530866426
• gnomAD v2: 2-101478819-GT-G
• gnomAD v3: 2-100862357-GT-G
• gnomAD v4: 2-100862357-GT-G
• MyVariant Identifiers: chr2:g.101478820del (hg19) ; chr2:g.100862358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.100862365del , CM000664.2:g.100862365del	GRCh38
NC_000002.11:g.101478827del , CM000664.1:g.101478827del	GRCh37
NC_000002.10:g.100845259del	NCBI36
NG_023259.1:g.47215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000335681.10:c.-23+41951del MANE Select	ENSP00000338283.5:n.-23+41951del
ENST00000335681.9:c.-23+41951del	ENSP00000338283.5:n.-23+41951del
ENST00000427413.5:c.173+41166del	ENSP00000397595.2:n.173+41166del
NM_002518.3:c.-23+41951del	NP_002509.2:n.-23+41951del
XM_005263953.1:c.173+41166del	XP_005264010.1:n.173+41166del
XM_005263954.1:c.173+41166del	XP_005264011.1:n.173+41166del
XM_005263957.1:c.173+41166del	XP_005264014.1:n.173+41166del
XM_005263959.1:c.173+41166del	XP_005264016.1:n.173+41166del
XM_005263960.1:c.173+41166del	XP_005264017.1:n.173+41166del
XM_011511242.1:c.-23+41951del	XP_011509544.1:n.-23+41951del
XM_011511243.1:c.173+41166del	XP_011509545.1:n.173+41166del
XR_922928.1:n.175+41166del
XM_005263953.2:c.173+41166del	XP_005264010.1:n.173+41166del
XM_005263959.2:c.173+41166del	XP_005264016.1:n.173+41166del
XM_005263960.2:c.173+41166del	XP_005264017.1:n.173+41166del
XM_011511242.2:c.-23+41951del	XP_011509544.1:n.-23+41951del
XM_011511243.2:c.173+41166del	XP_011509545.1:n.173+41166del
XM_017004214.1:c.173+41166del	XP_016859703.1:n.173+41166del
XM_017004215.1:c.173+41166del	XP_016859704.1:n.173+41166del
XM_017004216.1:c.173+41166del	XP_016859705.1:n.173+41166del
XM_017004217.1:c.173+41166del	XP_016859706.1:n.173+41166del
NM_002518.4:c.-23+41951del MANE Select	NP_002509.2:n.-23+41951del