Canonical Allele Identifier: CA345884157

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218838-C-T
• MyVariant Identifiers: chr2:g.15358962C>T (hg19) ; chr2:g.15218838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218838C>T , CM000664.2:g.15218838C>T	GRCh38
NC_000002.11:g.15358962C>T , CM000664.1:g.15358962C>T	GRCh37
NC_000002.10:g.15276413C>T	NCBI36
NG_032964.1:g.347511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4353G>A
ENST00000700062.1:c.4426+13584G>A
ENST00000700063.1:c.878G>A
ENST00000700064.1:c.2223G>A
ENST00000281513.10:c.6367G>A MANE Select	ENSP00000281513.5:p.Asp2123Asn
ENST00000281513.9:c.6367G>A	ENSP00000281513.5:p.Asp2123Asn
ENST00000417461.5:c.512+13584G>A	ENSP00000392421.1:n.512+13584G>A
ENST00000442506.5:c.3510G>A
NM_015909.3:c.6367G>A	NP_056993.2:p.Asp2123Asn
NR_052013.2:n.6280+13584G>A
XM_011510357.1:c.6238G>A	XP_011508659.1:p.Asp2080Asn
XM_011510358.1:c.6367G>A	XP_011508660.1:p.Asp2123Asn
XM_011510359.1:c.5728G>A	XP_011508661.1:p.Asp1910Asn
XM_011510360.1:c.4168G>A	XP_011508662.1:p.Asp1390Asn
XM_011510361.1:c.4159G>A	XP_011508663.1:p.Asp1387Asn
XM_011510357.2:c.6238G>A	XP_011508659.1:p.Asp2080Asn
XM_011510358.2:c.6367G>A	XP_011508660.1:p.Asp2123Asn
XM_011510360.2:c.4168G>A	XP_011508662.1:p.Asp1390Asn
XM_011510361.2:c.4159G>A	XP_011508663.1:p.Asp1387Asn
XM_017004317.1:c.6367G>A	XP_016859806.1:p.Asp2123Asn
XM_024452961.1:c.5728G>A	XP_024308729.1:p.Asp1910Asn
NM_015909.4:c.6367G>A MANE Select	NP_056993.2:p.Asp2123Asn
NR_052013.3:n.6266+13584G>A