Canonical Allele Identifier: CA345890310

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424456-C-G
• MyVariant Identifiers: chr2:g.15564580C>G (hg19) ; chr2:g.15424456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424456C>G , CM000664.2:g.15424456C>G	GRCh38
NC_000002.11:g.15564580C>G , CM000664.1:g.15564580C>G	GRCh37
NC_000002.10:g.15482031C>G	NCBI36
NG_032964.1:g.141893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.533G>C
ENST00000700062.1:c.533G>C
ENST00000700065.1:n.2449G>C
ENST00000700066.1:c.1953G>C	ENSP00000514780.1:p.Glu651Asp
ENST00000281513.10:c.2436G>C MANE Select	ENSP00000281513.5:p.Glu812Asp
ENST00000281513.9:c.2436G>C	ENSP00000281513.5:p.Glu812Asp
NM_015909.3:c.2436G>C	NP_056993.2:p.Glu812Asp
NR_052013.2:n.2480G>C
XM_011510357.1:c.2307G>C	XP_011508659.1:p.Glu769Asp
XM_011510358.1:c.2436G>C	XP_011508660.1:p.Glu812Asp
XM_011510359.1:c.1797G>C	XP_011508661.1:p.Glu599Asp
XM_011510360.1:c.237G>C	XP_011508662.1:p.Glu79Asp
XM_011510361.1:c.228G>C	XP_011508663.1:p.Glu76Asp
XM_011510357.2:c.2307G>C	XP_011508659.1:p.Glu769Asp
XM_011510358.2:c.2436G>C	XP_011508660.1:p.Glu812Asp
XM_011510360.2:c.237G>C	XP_011508662.1:p.Glu79Asp
XM_011510361.2:c.228G>C	XP_011508663.1:p.Glu76Asp
XM_017004317.1:c.2436G>C	XP_016859806.1:p.Glu812Asp
XM_024452961.1:c.1797G>C	XP_024308729.1:p.Glu599Asp
NM_015909.4:c.2436G>C MANE Select	NP_056993.2:p.Glu812Asp
NR_052013.3:n.2466G>C