Canonical Allele Identifier: CA759128874

Gene: NBAS

Linked Data

• dbSNP Id: rs1205971988
• gnomAD v4: 2-15424528-T-G
• MyVariant Identifiers: chr2:g.15564652T>G (hg19) ; chr2:g.15424528T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424528T>G , CM000664.2:g.15424528T>G	GRCh38
NC_000002.11:g.15564652T>G , CM000664.1:g.15564652T>G	GRCh37
NC_000002.10:g.15482103T>G	NCBI36
NG_032964.1:g.141821A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.521-60A>C
ENST00000700062.1:c.521-60A>C
ENST00000700065.1:n.2437-60A>C
ENST00000700066.1:c.1941-60A>C	ENSP00000514780.1:n.1941-60A>C
ENST00000281513.10:c.2424-60A>C MANE Select	ENSP00000281513.5:n.2424-60A>C
ENST00000281513.9:c.2424-60A>C	ENSP00000281513.5:n.2424-60A>C
NM_015909.3:c.2424-60A>C	NP_056993.2:n.2424-60A>C
NR_052013.2:n.2468-60A>C
XM_011510357.1:c.2295-60A>C	XP_011508659.1:n.2295-60A>C
XM_011510358.1:c.2424-60A>C	XP_011508660.1:n.2424-60A>C
XM_011510359.1:c.1785-60A>C	XP_011508661.1:n.1785-60A>C
XM_011510360.1:c.225-60A>C	XP_011508662.1:n.225-60A>C
XM_011510361.1:c.216-60A>C	XP_011508663.1:n.216-60A>C
XM_011510357.2:c.2295-60A>C	XP_011508659.1:n.2295-60A>C
XM_011510358.2:c.2424-60A>C	XP_011508660.1:n.2424-60A>C
XM_011510360.2:c.225-60A>C	XP_011508662.1:n.225-60A>C
XM_011510361.2:c.216-60A>C	XP_011508663.1:n.216-60A>C
XM_017004317.1:c.2424-60A>C	XP_016859806.1:n.2424-60A>C
XM_024452961.1:c.1785-60A>C	XP_024308729.1:n.1785-60A>C
NM_015909.4:c.2424-60A>C MANE Select	NP_056993.2:n.2424-60A>C
NR_052013.3:n.2454-60A>C