Canonical Allele Identifier: CA345889631

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564494T>G (hg19) ; chr2:g.15424370T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424370T>G , CM000664.2:g.15424370T>G	GRCh38
NC_000002.11:g.15564494T>G , CM000664.1:g.15564494T>G	GRCh37
NC_000002.10:g.15481945T>G	NCBI36
NG_032964.1:g.141979A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.619A>C
ENST00000700062.1:c.619A>C
ENST00000700065.1:n.2535A>C
ENST00000700066.1:c.2039A>C	ENSP00000514780.1:p.Lys680Thr
ENST00000281513.10:c.2522A>C MANE Select	ENSP00000281513.5:p.Lys841Thr
ENST00000281513.9:c.2522A>C	ENSP00000281513.5:p.Lys841Thr
ENST00000441755.5:c.23A>C	ENSP00000396501.1:p.Lys8Thr
ENST00000442506.5:c.25A>C
NM_015909.3:c.2522A>C	NP_056993.2:p.Lys841Thr
NR_052013.2:n.2566A>C
XM_011510357.1:c.2393A>C	XP_011508659.1:p.Lys798Thr
XM_011510358.1:c.2522A>C	XP_011508660.1:p.Lys841Thr
XM_011510359.1:c.1883A>C	XP_011508661.1:p.Lys628Thr
XM_011510360.1:c.323A>C	XP_011508662.1:p.Lys108Thr
XM_011510361.1:c.314A>C	XP_011508663.1:p.Lys105Thr
XM_011510357.2:c.2393A>C	XP_011508659.1:p.Lys798Thr
XM_011510358.2:c.2522A>C	XP_011508660.1:p.Lys841Thr
XM_011510360.2:c.323A>C	XP_011508662.1:p.Lys108Thr
XM_011510361.2:c.314A>C	XP_011508663.1:p.Lys105Thr
XM_017004317.1:c.2522A>C	XP_016859806.1:p.Lys841Thr
XM_024452961.1:c.1883A>C	XP_024308729.1:p.Lys628Thr
NM_015909.4:c.2522A>C MANE Select	NP_056993.2:p.Lys841Thr
NR_052013.3:n.2552A>C