Canonical Allele Identifier: CA42632251

Gene: NBAS

Linked Data

• dbSNP Id: rs934712316
• gnomAD v2: 2-15564249-A-G
• gnomAD v3: 2-15424125-A-G
• gnomAD v4: 2-15424125-A-G
• MyVariant Identifiers: chr2:g.15564249A>G (hg19) ; chr2:g.15424125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424125A>G , CM000664.2:g.15424125A>G	GRCh38
NC_000002.11:g.15564249A>G , CM000664.1:g.15564249A>G	GRCh37
NC_000002.10:g.15481700A>G	NCBI36
NG_032964.1:g.142224T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+190T>C
ENST00000700062.1:c.674+190T>C
ENST00000700065.1:n.2590+190T>C
ENST00000700066.1:c.2094+190T>C	ENSP00000514780.1:n.2094+190T>C
ENST00000281513.10:c.2577+190T>C MANE Select	ENSP00000281513.5:n.2577+190T>C
ENST00000281513.9:c.2577+190T>C	ENSP00000281513.5:n.2577+190T>C
ENST00000441755.5:c.78+190T>C	ENSP00000396501.1:n.78+190T>C
ENST00000442506.5:c.80+190T>C
NM_015909.3:c.2577+190T>C	NP_056993.2:n.2577+190T>C
NR_052013.2:n.2621+190T>C
XM_011510357.1:c.2448+190T>C	XP_011508659.1:n.2448+190T>C
XM_011510358.1:c.2577+190T>C	XP_011508660.1:n.2577+190T>C
XM_011510359.1:c.1938+190T>C	XP_011508661.1:n.1938+190T>C
XM_011510360.1:c.378+190T>C	XP_011508662.1:n.378+190T>C
XM_011510361.1:c.369+190T>C	XP_011508663.1:n.369+190T>C
XM_011510357.2:c.2448+190T>C	XP_011508659.1:n.2448+190T>C
XM_011510358.2:c.2577+190T>C	XP_011508660.1:n.2577+190T>C
XM_011510360.2:c.378+190T>C	XP_011508662.1:n.378+190T>C
XM_011510361.2:c.369+190T>C	XP_011508663.1:n.369+190T>C
XM_017004317.1:c.2577+190T>C	XP_016859806.1:n.2577+190T>C
XM_024452961.1:c.1938+190T>C	XP_024308729.1:n.1938+190T>C
NM_015909.4:c.2577+190T>C MANE Select	NP_056993.2:n.2577+190T>C
NR_052013.3:n.2607+190T>C