Canonical Allele Identifier: CA345889813

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564506A>G (hg19) ; chr2:g.15424382A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424382A>G , CM000664.2:g.15424382A>G	GRCh38
NC_000002.11:g.15564506A>G , CM000664.1:g.15564506A>G	GRCh37
NC_000002.10:g.15481957A>G	NCBI36
NG_032964.1:g.141967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.607T>C
ENST00000700062.1:c.607T>C
ENST00000700065.1:n.2523T>C
ENST00000700066.1:c.2027T>C	ENSP00000514780.1:p.Leu676Pro
ENST00000281513.10:c.2510T>C MANE Select	ENSP00000281513.5:p.Leu837Pro
ENST00000281513.9:c.2510T>C	ENSP00000281513.5:p.Leu837Pro
ENST00000441755.5:c.11T>C	ENSP00000396501.1:p.Leu4Pro
ENST00000442506.5:c.13T>C
NM_015909.3:c.2510T>C	NP_056993.2:p.Leu837Pro
NR_052013.2:n.2554T>C
XM_011510357.1:c.2381T>C	XP_011508659.1:p.Leu794Pro
XM_011510358.1:c.2510T>C	XP_011508660.1:p.Leu837Pro
XM_011510359.1:c.1871T>C	XP_011508661.1:p.Leu624Pro
XM_011510360.1:c.311T>C	XP_011508662.1:p.Leu104Pro
XM_011510361.1:c.302T>C	XP_011508663.1:p.Leu101Pro
XM_011510357.2:c.2381T>C	XP_011508659.1:p.Leu794Pro
XM_011510358.2:c.2510T>C	XP_011508660.1:p.Leu837Pro
XM_011510360.2:c.311T>C	XP_011508662.1:p.Leu104Pro
XM_011510361.2:c.302T>C	XP_011508663.1:p.Leu101Pro
XM_017004317.1:c.2510T>C	XP_016859806.1:p.Leu837Pro
XM_024452961.1:c.1871T>C	XP_024308729.1:p.Leu624Pro
NM_015909.4:c.2510T>C MANE Select	NP_056993.2:p.Leu837Pro
NR_052013.3:n.2540T>C