Canonical Allele Identifier: CA1535027

Gene: NBAS

Linked Data

• dbSNP Id: rs367701295
• ExAC: 2:15358974 G / A
• gnomAD v2: 2-15358974-G-A
• gnomAD v3: 2-15218850-G-A
• gnomAD v4: 2-15218850-G-A
• MyVariant Identifiers: chr2:g.15358974G>A (hg19) ; chr2:g.15218850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218850G>A , CM000664.2:g.15218850G>A	GRCh38
NC_000002.11:g.15358974G>A , CM000664.1:g.15358974G>A	GRCh37
NC_000002.10:g.15276425G>A	NCBI36
NG_032964.1:g.347499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4341C>T
ENST00000700062.1:c.4426+13572C>T
ENST00000700063.1:c.866C>T
ENST00000700064.1:c.2211C>T
ENST00000281513.10:c.6355C>T MANE Select	ENSP00000281513.5:p.Leu2119=
ENST00000281513.9:c.6355C>T	ENSP00000281513.5:p.Leu2119=
ENST00000417461.5:c.512+13572C>T	ENSP00000392421.1:n.512+13572C>T
ENST00000442506.5:c.3498C>T
NM_015909.3:c.6355C>T	NP_056993.2:p.Leu2119=
NR_052013.2:n.6280+13572C>T
XM_011510357.1:c.6226C>T	XP_011508659.1:p.Leu2076=
XM_011510358.1:c.6355C>T	XP_011508660.1:p.Leu2119=
XM_011510359.1:c.5716C>T	XP_011508661.1:p.Leu1906=
XM_011510360.1:c.4156C>T	XP_011508662.1:p.Leu1386=
XM_011510361.1:c.4147C>T	XP_011508663.1:p.Leu1383=
XM_011510357.2:c.6226C>T	XP_011508659.1:p.Leu2076=
XM_011510358.2:c.6355C>T	XP_011508660.1:p.Leu2119=
XM_011510360.2:c.4156C>T	XP_011508662.1:p.Leu1386=
XM_011510361.2:c.4147C>T	XP_011508663.1:p.Leu1383=
XM_017004317.1:c.6355C>T	XP_016859806.1:p.Leu2119=
XM_024452961.1:c.5716C>T	XP_024308729.1:p.Leu1906=
NM_015909.4:c.6355C>T MANE Select	NP_056993.2:p.Leu2119=
NR_052013.3:n.6266+13572C>T