Canonical Allele Identifier: CA935674012

Gene: NAV2

Linked Data

• dbSNP Id: rs2044558389
• gnomAD v3: 11-19547975-T-C
• gnomAD v4: 11-19547975-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19547975T>C , CM000673.2:g.19547975T>C	GRCh38
NC_000011.9:g.19569522T>C , CM000673.1:g.19569522T>C	GRCh37
NC_000011.8:g.19526098T>C	NCBI36
NG_030347.1:g.202252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360655.8:c.75+196948T>C	ENSP00000353871.4:n.75+196948T>C
NM_001111018.1:c.75+196948T>C	NP_001104488.1:n.75+196948T>C
XM_011520452.1:c.75+196948T>C	XP_011518754.1:n.75+196948T>C
XM_011520452.2:c.75+196948T>C	XP_011518754.1:n.75+196948T>C
XM_017018520.2:c.75+196948T>C	XP_016874009.1:n.75+196948T>C
XM_017018522.1:c.75+196948T>C	XP_016874011.1:n.75+196948T>C
XM_024448758.1:c.75+196948T>C	XP_024304526.1:n.75+196948T>C
NM_001111018.2:c.75+196948T>C	NP_001104488.1:n.75+196948T>C