Canonical Allele Identifier: CA1956320263

Gene: NAV2

Linked Data

• dbSNP Id: rs2050951738

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19988010T>C , CM000673.2:g.19988010T>C	GRCh38
NC_000011.9:g.20009556T>C , CM000673.1:g.20009556T>C	GRCh37
NC_000011.8:g.19966132T>C	NCBI36
NG_030347.1:g.642286T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349880.9:c.2768+3763T>C MANE Select	ENSP00000309577.6:n.2768+3763T>C
ENST00000396085.6:c.2768+3763T>C	ENSP00000379394.1:n.2768+3763T>C
ENST00000349880.8:c.2768+3763T>C	ENSP00000309577.6:n.2768+3763T>C
ENST00000360655.8:c.2576+3763T>C	ENSP00000353871.4:n.2576+3763T>C
ENST00000396085.5:c.2768+3763T>C	ENSP00000379394.1:n.2768+3763T>C
ENST00000396087.7:c.2837+3763T>C	ENSP00000379396.3:n.2837+3763T>C
ENST00000527559.6:c.2837+3763T>C	ENSP00000435395.3:n.2837+3763T>C
ENST00000540292.5:c.2768+3763T>C	ENSP00000443489.2:n.2768+3763T>C
NM_001111018.1:c.2576+3763T>C	NP_001104488.1:n.2576+3763T>C
NM_001244963.1:c.2837+3763T>C	NP_001231892.1:n.2837+3763T>C
NM_145117.4:c.2768+3763T>C	NP_660093.2:n.2768+3763T>C
NM_182964.5:c.2768+3763T>C	NP_892009.3:n.2768+3763T>C
XM_006718364.2:c.2768+3763T>C	XP_006718427.1:n.2768+3763T>C
XM_006718365.2:c.2837+3763T>C	XP_006718428.1:n.2837+3763T>C
XM_006718366.2:c.2621+3763T>C	XP_006718429.1:n.2621+3763T>C
XM_011520444.1:c.2837+3763T>C	XP_011518746.1:n.2837+3763T>C
XM_011520445.1:c.2837+3763T>C	XP_011518747.1:n.2837+3763T>C
XM_011520446.1:c.2837+3763T>C	XP_011518748.1:n.2837+3763T>C
XM_011520447.1:c.2837+3763T>C	XP_011518749.1:n.2837+3763T>C
XM_011520448.1:c.2708+3763T>C	XP_011518750.1:n.2708+3763T>C
XM_011520449.1:c.2837+3763T>C	XP_011518751.1:n.2837+3763T>C
XM_011520450.1:c.2837+3763T>C	XP_011518752.1:n.2837+3763T>C
XM_011520451.1:c.2558+3763T>C	XP_011518753.1:n.2558+3763T>C
XM_011520452.1:c.2576+3763T>C	XP_011518754.1:n.2576+3763T>C
XM_006718364.4:c.2768+3763T>C	XP_006718427.1:n.2768+3763T>C
XM_006718365.4:c.2837+3763T>C	XP_006718428.1:n.2837+3763T>C
XM_006718366.4:c.2621+3763T>C	XP_006718429.1:n.2621+3763T>C
XM_011520444.3:c.2837+3763T>C	XP_011518746.1:n.2837+3763T>C
XM_011520445.3:c.2837+3763T>C	XP_011518747.1:n.2837+3763T>C
XM_011520446.3:c.2837+3763T>C	XP_011518748.1:n.2837+3763T>C
XM_011520447.3:c.2837+3763T>C	XP_011518749.1:n.2837+3763T>C
XM_011520448.3:c.2708+3763T>C	XP_011518750.1:n.2708+3763T>C
XM_011520449.3:c.2837+3763T>C	XP_011518751.1:n.2837+3763T>C
XM_011520450.3:c.2837+3763T>C	XP_011518752.1:n.2837+3763T>C
XM_011520451.2:c.2558+3763T>C	XP_011518753.1:n.2558+3763T>C
XM_011520452.2:c.2576+3763T>C	XP_011518754.1:n.2576+3763T>C
XM_017018520.2:c.2645+3763T>C	XP_016874009.1:n.2645+3763T>C
XM_017018521.2:c.2837+3763T>C	XP_016874010.1:n.2837+3763T>C
XM_017018522.1:c.2576+3763T>C	XP_016874011.1:n.2576+3763T>C
XM_017018523.1:c.2402+3763T>C	XP_016874012.1:n.2402+3763T>C
XM_017018524.2:c.2402+3763T>C	XP_016874013.1:n.2402+3763T>C
XM_017018525.1:c.1802+3763T>C	XP_016874014.1:n.1802+3763T>C
XM_017018526.1:c.119+3763T>C	XP_016874015.1:n.119+3763T>C
XM_024448758.1:c.2645+3763T>C	XP_024304526.1:n.2645+3763T>C
NM_182964.6:c.2768+3763T>C	NP_892009.3:n.2768+3763T>C
NM_001244963.2:c.2837+3763T>C	NP_001231892.1:n.2837+3763T>C
NM_145117.5:c.2768+3763T>C MANE Select	NP_660093.2:n.2768+3763T>C
NM_001111018.2:c.2576+3763T>C	NP_001104488.1:n.2576+3763T>C