Canonical Allele Identifier: CA345884094

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358958C>T (hg19) ; chr2:g.15218834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218834C>T , CM000664.2:g.15218834C>T	GRCh38
NC_000002.11:g.15358958C>T , CM000664.1:g.15358958C>T	GRCh37
NC_000002.10:g.15276409C>T	NCBI36
NG_032964.1:g.347515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4357G>A
ENST00000700062.1:c.4426+13588G>A
ENST00000700063.1:c.882G>A
ENST00000700064.1:c.2227G>A
ENST00000281513.10:c.6371G>A MANE Select	ENSP00000281513.5:p.Ser2124Asn
ENST00000281513.9:c.6371G>A	ENSP00000281513.5:p.Ser2124Asn
ENST00000417461.5:c.512+13588G>A	ENSP00000392421.1:n.512+13588G>A
ENST00000442506.5:c.3514G>A
NM_015909.3:c.6371G>A	NP_056993.2:p.Ser2124Asn
NR_052013.2:n.6280+13588G>A
XM_011510357.1:c.6242G>A	XP_011508659.1:p.Ser2081Asn
XM_011510358.1:c.6371G>A	XP_011508660.1:p.Ser2124Asn
XM_011510359.1:c.5732G>A	XP_011508661.1:p.Ser1911Asn
XM_011510360.1:c.4172G>A	XP_011508662.1:p.Ser1391Asn
XM_011510361.1:c.4163G>A	XP_011508663.1:p.Ser1388Asn
XM_011510357.2:c.6242G>A	XP_011508659.1:p.Ser2081Asn
XM_011510358.2:c.6371G>A	XP_011508660.1:p.Ser2124Asn
XM_011510360.2:c.4172G>A	XP_011508662.1:p.Ser1391Asn
XM_011510361.2:c.4163G>A	XP_011508663.1:p.Ser1388Asn
XM_017004317.1:c.6371G>A	XP_016859806.1:p.Ser2124Asn
XM_024452961.1:c.5732G>A	XP_024308729.1:p.Ser1911Asn
NM_015909.4:c.6371G>A MANE Select	NP_056993.2:p.Ser2124Asn
NR_052013.3:n.6266+13588G>A