Canonical Allele Identifier: CA345883835

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358926T>G (hg19) ; chr2:g.15218802T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218802T>G , CM000664.2:g.15218802T>G	GRCh38
NC_000002.11:g.15358926T>G , CM000664.1:g.15358926T>G	GRCh37
NC_000002.10:g.15276377T>G	NCBI36
NG_032964.1:g.347547A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4389A>C
ENST00000700062.1:c.4426+13620A>C
ENST00000700063.1:c.914A>C
ENST00000700064.1:c.2259A>C
ENST00000281513.10:c.6403A>C MANE Select	ENSP00000281513.5:p.Ile2135Leu
ENST00000281513.9:c.6403A>C	ENSP00000281513.5:p.Ile2135Leu
ENST00000417461.5:c.512+13620A>C	ENSP00000392421.1:n.512+13620A>C
ENST00000442506.5:c.3546A>C
NM_015909.3:c.6403A>C	NP_056993.2:p.Ile2135Leu
NR_052013.2:n.6280+13620A>C
XM_011510357.1:c.6274A>C	XP_011508659.1:p.Ile2092Leu
XM_011510358.1:c.6403A>C	XP_011508660.1:p.Ile2135Leu
XM_011510359.1:c.5764A>C	XP_011508661.1:p.Ile1922Leu
XM_011510360.1:c.4204A>C	XP_011508662.1:p.Ile1402Leu
XM_011510361.1:c.4195A>C	XP_011508663.1:p.Ile1399Leu
XM_011510357.2:c.6274A>C	XP_011508659.1:p.Ile2092Leu
XM_011510358.2:c.6403A>C	XP_011508660.1:p.Ile2135Leu
XM_011510360.2:c.4204A>C	XP_011508662.1:p.Ile1402Leu
XM_011510361.2:c.4195A>C	XP_011508663.1:p.Ile1399Leu
XM_017004317.1:c.6403A>C	XP_016859806.1:p.Ile2135Leu
XM_024452961.1:c.5764A>C	XP_024308729.1:p.Ile1922Leu
NM_015909.4:c.6403A>C MANE Select	NP_056993.2:p.Ile2135Leu
NR_052013.3:n.6266+13620A>C