Canonical Allele Identifier: CA935674019

Gene: NAV2

Linked Data

• gnomAD v3: 11-19548014-C-T
• gnomAD v4: 11-19548014-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19548014C>T , CM000673.2:g.19548014C>T	GRCh38
NC_000011.9:g.19569561C>T , CM000673.1:g.19569561C>T	GRCh37
NC_000011.8:g.19526137C>T	NCBI36
NG_030347.1:g.202291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360655.8:c.75+196987C>T	ENSP00000353871.4:n.75+196987C>T
NM_001111018.1:c.75+196987C>T	NP_001104488.1:n.75+196987C>T
XM_011520452.1:c.75+196987C>T	XP_011518754.1:n.75+196987C>T
XM_011520452.2:c.75+196987C>T	XP_011518754.1:n.75+196987C>T
XM_017018520.2:c.75+196987C>T	XP_016874009.1:n.75+196987C>T
XM_017018522.1:c.75+196987C>T	XP_016874011.1:n.75+196987C>T
XM_024448758.1:c.75+196987C>T	XP_024304526.1:n.75+196987C>T
NM_001111018.2:c.75+196987C>T	NP_001104488.1:n.75+196987C>T