Canonical Allele Identifier: CA1274593070

Gene: NPAS2

Linked Data

• dbSNP Id: rs1053096
• gnomAD v4: 2-100996153-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.100996153T>A , CM000664.2:g.100996153T>A	GRCh38
NC_000002.11:g.101612615T>A , CM000664.1:g.101612615T>A	GRCh37
NC_000002.10:g.100979047T>A	NCBI36
NG_023259.1:g.181003T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000335681.10:c.*571T>A MANE Select	ENSP00000338283.5:n.*571T>A
ENST00000335681.9:c.*571T>A	ENSP00000338283.5:n.*571T>A
ENST00000495559.1:n.3165T>A
NM_002518.3:c.*571T>A	NP_002509.2:n.*571T>A
XM_005263953.1:c.*571T>A	XP_005264010.1:n.*571T>A
XM_005263954.1:c.*203T>A	XP_005264011.1:n.*203T>A
XM_005263957.1:c.*571T>A	XP_005264014.1:n.*571T>A
XM_005263959.1:c.*337T>A	XP_005264016.1:n.*337T>A
XM_005263960.1:c.*571T>A	XP_005264017.1:n.*571T>A
XM_005263961.3:c.*571T>A	XP_005264018.1:n.*571T>A
XM_011511242.1:c.*571T>A	XP_011509544.1:n.*571T>A
XM_005263953.2:c.*571T>A	XP_005264010.1:n.*571T>A
XM_005263959.2:c.*337T>A	XP_005264016.1:n.*337T>A
XM_005263960.2:c.*571T>A	XP_005264017.1:n.*571T>A
XM_005263961.4:c.*571T>A	XP_005264018.1:n.*571T>A
XM_011511242.2:c.*571T>A	XP_011509544.1:n.*571T>A
XM_017004214.1:c.*571T>A	XP_016859703.1:n.*571T>A
XM_017004216.1:c.*337T>A	XP_016859705.1:n.*337T>A
XM_017004217.1:c.*337T>A	XP_016859706.1:n.*337T>A
NM_002518.4:c.*571T>A MANE Select	NP_002509.2:n.*571T>A