Canonical Allele Identifier: CA424870641

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564586A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424462A>G , CM000664.2:g.15424462A>G	GRCh38
NC_000002.11:g.15564586A>G , CM000664.1:g.15564586A>G	GRCh37
NC_000002.10:g.15482037A>G	NCBI36
NG_032964.1:g.141887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.527T>C
ENST00000700062.1:c.527T>C
ENST00000700065.1:n.2443T>C
ENST00000700066.1:c.1947T>C	ENSP00000514780.1:p.Val649=
ENST00000281513.10:c.2430T>C MANE Select	ENSP00000281513.5:p.Val810=
ENST00000281513.9:c.2430T>C	ENSP00000281513.5:p.Val810=
NM_015909.3:c.2430T>C	NP_056993.2:p.Val810=
NR_052013.2:n.2474T>C
XM_011510357.1:c.2301T>C	XP_011508659.1:p.Val767=
XM_011510358.1:c.2430T>C	XP_011508660.1:p.Val810=
XM_011510359.1:c.1791T>C	XP_011508661.1:p.Val597=
XM_011510360.1:c.231T>C	XP_011508662.1:p.Val77=
XM_011510361.1:c.222T>C	XP_011508663.1:p.Val74=
XM_011510357.2:c.2301T>C	XP_011508659.1:p.Val767=
XM_011510358.2:c.2430T>C	XP_011508660.1:p.Val810=
XM_011510360.2:c.231T>C	XP_011508662.1:p.Val77=
XM_011510361.2:c.222T>C	XP_011508663.1:p.Val74=
XM_017004317.1:c.2430T>C	XP_016859806.1:p.Val810=
XM_024452961.1:c.1791T>C	XP_024308729.1:p.Val597=
NM_015909.4:c.2430T>C MANE Select	NP_056993.2:p.Val810=
NR_052013.3:n.2460T>C