Canonical Allele Identifier: CA754167980

Gene: NPAS2

Linked Data

• dbSNP Id: rs1302588156
• gnomAD v3: 2-100862638-GGT-G
• gnomAD v4: 2-100862638-GGT-G
• MyVariant Identifiers: chr2:g.101479101_101479102del (hg19) ; chr2:g.100862639_100862640del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.100862639_100862640del , CM000664.2:g.100862639_100862640del	GRCh38
NC_000002.11:g.101479101_101479102del , CM000664.1:g.101479101_101479102del	GRCh37
NC_000002.10:g.100845533_100845534del	NCBI36
NG_023259.1:g.47489_47490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000335681.10:c.-22-42094_-22-42093del MANE Select	ENSP00000338283.5:n.-22-42094_-22-42093de...
ENST00000335681.9:c.-22-42094_-22-42093del	ENSP00000338283.5:n.-22-42094_-22-42093de...
ENST00000427413.5:c.173+41440_173+41441del	ENSP00000397595.2:n.173+41440_173+41441de...
NM_002518.3:c.-22-42094_-22-42093del	NP_002509.2:n.-22-42094_-22-42093del
XM_005263953.1:c.173+41440_173+41441del	XP_005264010.1:n.173+41440_173+41441del
XM_005263954.1:c.173+41440_173+41441del	XP_005264011.1:n.173+41440_173+41441del
XM_005263957.1:c.173+41440_173+41441del	XP_005264014.1:n.173+41440_173+41441del
XM_005263959.1:c.173+41440_173+41441del	XP_005264016.1:n.173+41440_173+41441del
XM_005263960.1:c.173+41440_173+41441del	XP_005264017.1:n.173+41440_173+41441del
XM_011511242.1:c.-22-42094_-22-42093del	XP_011509544.1:n.-22-42094_-22-42093del
XM_011511243.1:c.173+41440_173+41441del	XP_011509545.1:n.173+41440_173+41441del
XR_922928.1:n.175+41440_175+41441del
XM_005263953.2:c.173+41440_173+41441del	XP_005264010.1:n.173+41440_173+41441del
XM_005263959.2:c.173+41440_173+41441del	XP_005264016.1:n.173+41440_173+41441del
XM_005263960.2:c.173+41440_173+41441del	XP_005264017.1:n.173+41440_173+41441del
XM_011511242.2:c.-22-42094_-22-42093del	XP_011509544.1:n.-22-42094_-22-42093del
XM_011511243.2:c.173+41440_173+41441del	XP_011509545.1:n.173+41440_173+41441del
XM_017004214.1:c.173+41440_173+41441del	XP_016859703.1:n.173+41440_173+41441del
XM_017004215.1:c.173+41440_173+41441del	XP_016859704.1:n.173+41440_173+41441del
XM_017004216.1:c.173+41440_173+41441del	XP_016859705.1:n.173+41440_173+41441del
XM_017004217.1:c.173+41440_173+41441del	XP_016859706.1:n.173+41440_173+41441del
NM_002518.4:c.-22-42094_-22-42093del MANE Select	NP_002509.2:n.-22-42094_-22-42093del