Canonical Allele Identifier: CA1536191

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1164816
• ClinVar RCV Id: RCV001511309
• dbSNP Id: rs74411619
• ExAC: 2:15542337 C / G
• gnomAD v2: 2-15542337-C-G
• gnomAD v3: 2-15402213-C-G
• gnomAD v4: 2-15402213-C-G
• MyVariant Identifiers: chr2:g.15542337C>G (hg19) ; chr2:g.15402213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402213C>G , CM000664.2:g.15402213C>G	GRCh38
NC_000002.11:g.15542337C>G , CM000664.1:g.15542337C>G	GRCh37
NC_000002.10:g.15459788C>G	NCBI36
NG_032964.1:g.164136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1123G>C
ENST00000700062.1:c.1123G>C
ENST00000700065.1:n.3039G>C
ENST00000281513.10:c.3026G>C MANE Select	ENSP00000281513.5:p.Cys1009Ser
ENST00000281513.9:c.3026G>C	ENSP00000281513.5:p.Cys1009Ser
ENST00000429842.1:c.318G>C
ENST00000441755.5:c.167G>C	ENSP00000396501.1:p.Cys56Ser
ENST00000442506.5:c.169G>C
NM_015909.3:c.3026G>C	NP_056993.2:p.Cys1009Ser
NR_052013.2:n.3070G>C
XM_011510357.1:c.2897G>C	XP_011508659.1:p.Cys966Ser
XM_011510358.1:c.3026G>C	XP_011508660.1:p.Cys1009Ser
XM_011510359.1:c.2387G>C	XP_011508661.1:p.Cys796Ser
XM_011510360.1:c.827G>C	XP_011508662.1:p.Cys276Ser
XM_011510361.1:c.818G>C	XP_011508663.1:p.Cys273Ser
XM_011510357.2:c.2897G>C	XP_011508659.1:p.Cys966Ser
XM_011510358.2:c.3026G>C	XP_011508660.1:p.Cys1009Ser
XM_011510360.2:c.827G>C	XP_011508662.1:p.Cys276Ser
XM_011510361.2:c.818G>C	XP_011508663.1:p.Cys273Ser
XM_017004317.1:c.3026G>C	XP_016859806.1:p.Cys1009Ser
XM_024452961.1:c.2387G>C	XP_024308729.1:p.Cys796Ser
NM_015909.4:c.3026G>C MANE Select	NP_056993.2:p.Cys1009Ser
NR_052013.3:n.3056G>C