Canonical Allele Identifier: CA345882123

Gene: NBAS

Linked Data

• dbSNP Id: rs1400269766
• gnomAD v2: 2-15542365-A-G
• gnomAD v4: 2-15402241-A-G
• MyVariant Identifiers: chr2:g.15542365A>G (hg19) ; chr2:g.15402241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402241A>G , CM000664.2:g.15402241A>G	GRCh38
NC_000002.11:g.15542365A>G , CM000664.1:g.15542365A>G	GRCh37
NC_000002.10:g.15459816A>G	NCBI36
NG_032964.1:g.164108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1095T>C
ENST00000700062.1:c.1095T>C
ENST00000700065.1:n.3011T>C
ENST00000281513.10:c.2998T>C MANE Select	ENSP00000281513.5:p.Tyr1000His
ENST00000281513.9:c.2998T>C	ENSP00000281513.5:p.Tyr1000His
ENST00000429842.1:c.290T>C
ENST00000441755.5:c.139T>C	ENSP00000396501.1:p.Tyr47His
ENST00000442506.5:c.141T>C
NM_015909.3:c.2998T>C	NP_056993.2:p.Tyr1000His
NR_052013.2:n.3042T>C
XM_011510357.1:c.2869T>C	XP_011508659.1:p.Tyr957His
XM_011510358.1:c.2998T>C	XP_011508660.1:p.Tyr1000His
XM_011510359.1:c.2359T>C	XP_011508661.1:p.Tyr787His
XM_011510360.1:c.799T>C	XP_011508662.1:p.Tyr267His
XM_011510361.1:c.790T>C	XP_011508663.1:p.Tyr264His
XM_011510357.2:c.2869T>C	XP_011508659.1:p.Tyr957His
XM_011510358.2:c.2998T>C	XP_011508660.1:p.Tyr1000His
XM_011510360.2:c.799T>C	XP_011508662.1:p.Tyr267His
XM_011510361.2:c.790T>C	XP_011508663.1:p.Tyr264His
XM_017004317.1:c.2998T>C	XP_016859806.1:p.Tyr1000His
XM_024452961.1:c.2359T>C	XP_024308729.1:p.Tyr787His
NM_015909.4:c.2998T>C MANE Select	NP_056993.2:p.Tyr1000His
NR_052013.3:n.3028T>C