Canonical Allele Identifier: CA345890273

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564575T>G (hg19) ; chr2:g.15424451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424451T>G , CM000664.2:g.15424451T>G	GRCh38
NC_000002.11:g.15564575T>G , CM000664.1:g.15564575T>G	GRCh37
NC_000002.10:g.15482026T>G	NCBI36
NG_032964.1:g.141898A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.538A>C
ENST00000700062.1:c.538A>C
ENST00000700065.1:n.2454A>C
ENST00000700066.1:c.1958A>C	ENSP00000514780.1:p.Asn653Thr
ENST00000281513.10:c.2441A>C MANE Select	ENSP00000281513.5:p.Asn814Thr
ENST00000281513.9:c.2441A>C	ENSP00000281513.5:p.Asn814Thr
NM_015909.3:c.2441A>C	NP_056993.2:p.Asn814Thr
NR_052013.2:n.2485A>C
XM_011510357.1:c.2312A>C	XP_011508659.1:p.Asn771Thr
XM_011510358.1:c.2441A>C	XP_011508660.1:p.Asn814Thr
XM_011510359.1:c.1802A>C	XP_011508661.1:p.Asn601Thr
XM_011510360.1:c.242A>C	XP_011508662.1:p.Asn81Thr
XM_011510361.1:c.233A>C	XP_011508663.1:p.Asn78Thr
XM_011510357.2:c.2312A>C	XP_011508659.1:p.Asn771Thr
XM_011510358.2:c.2441A>C	XP_011508660.1:p.Asn814Thr
XM_011510360.2:c.242A>C	XP_011508662.1:p.Asn81Thr
XM_011510361.2:c.233A>C	XP_011508663.1:p.Asn78Thr
XM_017004317.1:c.2441A>C	XP_016859806.1:p.Asn814Thr
XM_024452961.1:c.1802A>C	XP_024308729.1:p.Asn601Thr
NM_015909.4:c.2441A>C MANE Select	NP_056993.2:p.Asn814Thr
NR_052013.3:n.2471A>C