Canonical Allele Identifier: CA345881935

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402202-C-A
• MyVariant Identifiers: chr2:g.15542326C>A (hg19) ; chr2:g.15402202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402202C>A , CM000664.2:g.15402202C>A	GRCh38
NC_000002.11:g.15542326C>A , CM000664.1:g.15542326C>A	GRCh37
NC_000002.10:g.15459777C>A	NCBI36
NG_032964.1:g.164147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1134G>T
ENST00000700062.1:c.1134G>T
ENST00000700065.1:n.3050G>T
ENST00000281513.10:c.3037G>T MANE Select	ENSP00000281513.5:p.Asp1013Tyr
ENST00000281513.9:c.3037G>T	ENSP00000281513.5:p.Asp1013Tyr
ENST00000429842.1:c.329G>T
ENST00000441755.5:c.178G>T	ENSP00000396501.1:p.Asp60Tyr
ENST00000442506.5:c.180G>T
NM_015909.3:c.3037G>T	NP_056993.2:p.Asp1013Tyr
NR_052013.2:n.3081G>T
XM_011510357.1:c.2908G>T	XP_011508659.1:p.Asp970Tyr
XM_011510358.1:c.3037G>T	XP_011508660.1:p.Asp1013Tyr
XM_011510359.1:c.2398G>T	XP_011508661.1:p.Asp800Tyr
XM_011510360.1:c.838G>T	XP_011508662.1:p.Asp280Tyr
XM_011510361.1:c.829G>T	XP_011508663.1:p.Asp277Tyr
XM_011510357.2:c.2908G>T	XP_011508659.1:p.Asp970Tyr
XM_011510358.2:c.3037G>T	XP_011508660.1:p.Asp1013Tyr
XM_011510360.2:c.838G>T	XP_011508662.1:p.Asp280Tyr
XM_011510361.2:c.829G>T	XP_011508663.1:p.Asp277Tyr
XM_017004317.1:c.3037G>T	XP_016859806.1:p.Asp1013Tyr
XM_024452961.1:c.2398G>T	XP_024308729.1:p.Asp800Tyr
NM_015909.4:c.3037G>T MANE Select	NP_056993.2:p.Asp1013Tyr
NR_052013.3:n.3067G>T