Canonical Allele Identifier: CA1535025

Gene: NBAS

Linked Data

• dbSNP Id: rs146750683
• ExAC: 2:15358950 G / C
• gnomAD v2: 2-15358950-G-C
• MyVariant Identifiers: chr2:g.15358950G>C (hg19) ; chr2:g.15218826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218826G>C , CM000664.2:g.15218826G>C	GRCh38
NC_000002.11:g.15358950G>C , CM000664.1:g.15358950G>C	GRCh37
NC_000002.10:g.15276401G>C	NCBI36
NG_032964.1:g.347523C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4365C>G
ENST00000700062.1:c.4426+13596C>G
ENST00000700063.1:c.890C>G
ENST00000700064.1:c.2235C>G
ENST00000281513.10:c.6379C>G MANE Select	ENSP00000281513.5:p.Leu2127Val
ENST00000281513.9:c.6379C>G	ENSP00000281513.5:p.Leu2127Val
ENST00000417461.5:c.512+13596C>G	ENSP00000392421.1:n.512+13596C>G
ENST00000442506.5:c.3522C>G
NM_015909.3:c.6379C>G	NP_056993.2:p.Leu2127Val
NR_052013.2:n.6280+13596C>G
XM_011510357.1:c.6250C>G	XP_011508659.1:p.Leu2084Val
XM_011510358.1:c.6379C>G	XP_011508660.1:p.Leu2127Val
XM_011510359.1:c.5740C>G	XP_011508661.1:p.Leu1914Val
XM_011510360.1:c.4180C>G	XP_011508662.1:p.Leu1394Val
XM_011510361.1:c.4171C>G	XP_011508663.1:p.Leu1391Val
XM_011510357.2:c.6250C>G	XP_011508659.1:p.Leu2084Val
XM_011510358.2:c.6379C>G	XP_011508660.1:p.Leu2127Val
XM_011510360.2:c.4180C>G	XP_011508662.1:p.Leu1394Val
XM_011510361.2:c.4171C>G	XP_011508663.1:p.Leu1391Val
XM_017004317.1:c.6379C>G	XP_016859806.1:p.Leu2127Val
XM_024452961.1:c.5740C>G	XP_024308729.1:p.Leu1914Val
NM_015909.4:c.6379C>G MANE Select	NP_056993.2:p.Leu2127Val
NR_052013.3:n.6266+13596C>G