Canonical Allele Identifier: CA1535047

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1410784
• ClinVar RCV Id: RCV001920292
• dbSNP Id: rs137987698
• ExAC: 2:15359024 G / A
• gnomAD v2: 2-15359024-G-A
• gnomAD v3: 2-15218900-G-A
• gnomAD v4: 2-15218900-G-A
• COSMIC: COSM4503073
• MyVariant Identifiers: chr2:g.15359024G>A (hg19) ; chr2:g.15218900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218900G>A , CM000664.2:g.15218900G>A	GRCh38
NC_000002.11:g.15359024G>A , CM000664.1:g.15359024G>A	GRCh37
NC_000002.10:g.15276475G>A	NCBI36
NG_032964.1:g.347449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4291C>T
ENST00000700062.1:c.4426+13522C>T
ENST00000700063.1:c.816C>T
ENST00000700064.1:c.2161C>T
ENST00000281513.10:c.6305C>T MANE Select	ENSP00000281513.5:p.Pro2102Leu
ENST00000281513.9:c.6305C>T	ENSP00000281513.5:p.Pro2102Leu
ENST00000417461.5:c.512+13522C>T	ENSP00000392421.1:n.512+13522C>T
ENST00000442506.5:c.3448C>T
NM_015909.3:c.6305C>T	NP_056993.2:p.Pro2102Leu
NR_052013.2:n.6280+13522C>T
XM_011510357.1:c.6176C>T	XP_011508659.1:p.Pro2059Leu
XM_011510358.1:c.6305C>T	XP_011508660.1:p.Pro2102Leu
XM_011510359.1:c.5666C>T	XP_011508661.1:p.Pro1889Leu
XM_011510360.1:c.4106C>T	XP_011508662.1:p.Pro1369Leu
XM_011510361.1:c.4097C>T	XP_011508663.1:p.Pro1366Leu
XM_011510357.2:c.6176C>T	XP_011508659.1:p.Pro2059Leu
XM_011510358.2:c.6305C>T	XP_011508660.1:p.Pro2102Leu
XM_011510360.2:c.4106C>T	XP_011508662.1:p.Pro1369Leu
XM_011510361.2:c.4097C>T	XP_011508663.1:p.Pro1366Leu
XM_017004317.1:c.6305C>T	XP_016859806.1:p.Pro2102Leu
XM_024452961.1:c.5666C>T	XP_024308729.1:p.Pro1889Leu
NM_015909.4:c.6305C>T MANE Select	NP_056993.2:p.Pro2102Leu
NR_052013.3:n.6266+13522C>T