Canonical Allele Identifier: CA15151411
Gene: NPAS2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.100996153T>C
GRCh37 chr2:g.101612615T>C
gnomAD v2:
2:101612615 T / C
gnomAD v3:
2:100996153 T / C
gnomAD v4:
chr2-100996153-T-C
Joint Max Group AF 0.67930361 (NFE)
Genomes Max Group AF 0.67977031 (NFE)
Exomes Max Group AF 0.67634525 (NFE)
dbSNP:
1053096
JSON-LD

Genomic Alleles

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

Transcript Alleles

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