Canonical Allele Identifier: CA2660413272

Gene: NPAS2

Linked Data

• gnomAD v4: 2-100987367-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.100987367T>C , CM000664.2:g.100987367T>C	GRCh38
NC_000002.11:g.101603829T>C , CM000664.1:g.101603829T>C	GRCh37
NC_000002.10:g.100970261T>C	NCBI36
NG_023259.1:g.172217T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000335681.10:c.1630-712T>C MANE Select	ENSP00000338283.5:n.1630-712T>C
ENST00000335681.9:c.1630-712T>C	ENSP00000338283.5:n.1630-712T>C
ENST00000433408.1:c.125-712T>C
ENST00000450763.1:c.426+4990T>C	ENSP00000392125.1:n.426+4990T>C
ENST00000474550.5:n.5953T>C
NM_002518.3:c.1630-712T>C	NP_002509.2:n.1630-712T>C
XM_005263953.1:c.1825-712T>C	XP_005264010.1:n.1825-712T>C
XM_005263954.1:c.1825-712T>C	XP_005264011.1:n.1825-712T>C
XM_005263957.1:c.1711-712T>C	XP_005264014.1:n.1711-712T>C
XM_005263959.1:c.1825-712T>C	XP_005264016.1:n.1825-712T>C
XM_005263960.1:c.1516-712T>C	XP_005264017.1:n.1516-712T>C
XM_005263961.3:c.1258-712T>C	XP_005264018.1:n.1258-712T>C
XM_011511242.1:c.1540-712T>C	XP_011509544.1:n.1540-712T>C
XR_922928.1:n.1827-712T>C
XM_005263953.2:c.1825-712T>C	XP_005264010.1:n.1825-712T>C
XM_005263959.2:c.1825-712T>C	XP_005264016.1:n.1825-712T>C
XM_005263960.2:c.1516-712T>C	XP_005264017.1:n.1516-712T>C
XM_005263961.4:c.1258-712T>C	XP_005264018.1:n.1258-712T>C
XM_011511242.2:c.1540-712T>C	XP_011509544.1:n.1540-712T>C
XM_017004214.1:c.1825-712T>C	XP_016859703.1:n.1825-712T>C
XM_017004215.1:c.1825-712T>C	XP_016859704.1:n.1825-712T>C
XM_017004216.1:c.1825-712T>C	XP_016859705.1:n.1825-712T>C
XM_017004217.1:c.1516-712T>C	XP_016859706.1:n.1516-712T>C
NM_002518.4:c.1630-712T>C MANE Select	NP_002509.2:n.1630-712T>C