Canonical Allele Identifier: CA345882020

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402223-C-A
• MyVariant Identifiers: chr2:g.15542347C>A (hg19) ; chr2:g.15402223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402223C>A , CM000664.2:g.15402223C>A	GRCh38
NC_000002.11:g.15542347C>A , CM000664.1:g.15542347C>A	GRCh37
NC_000002.10:g.15459798C>A	NCBI36
NG_032964.1:g.164126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1113G>T
ENST00000700062.1:c.1113G>T
ENST00000700065.1:n.3029G>T
ENST00000281513.10:c.3016G>T MANE Select	ENSP00000281513.5:p.Asp1006Tyr
ENST00000281513.9:c.3016G>T	ENSP00000281513.5:p.Asp1006Tyr
ENST00000429842.1:c.308G>T
ENST00000441755.5:c.157G>T	ENSP00000396501.1:p.Asp53Tyr
ENST00000442506.5:c.159G>T
NM_015909.3:c.3016G>T	NP_056993.2:p.Asp1006Tyr
NR_052013.2:n.3060G>T
XM_011510357.1:c.2887G>T	XP_011508659.1:p.Asp963Tyr
XM_011510358.1:c.3016G>T	XP_011508660.1:p.Asp1006Tyr
XM_011510359.1:c.2377G>T	XP_011508661.1:p.Asp793Tyr
XM_011510360.1:c.817G>T	XP_011508662.1:p.Asp273Tyr
XM_011510361.1:c.808G>T	XP_011508663.1:p.Asp270Tyr
XM_011510357.2:c.2887G>T	XP_011508659.1:p.Asp963Tyr
XM_011510358.2:c.3016G>T	XP_011508660.1:p.Asp1006Tyr
XM_011510360.2:c.817G>T	XP_011508662.1:p.Asp273Tyr
XM_011510361.2:c.808G>T	XP_011508663.1:p.Asp270Tyr
XM_017004317.1:c.3016G>T	XP_016859806.1:p.Asp1006Tyr
XM_024452961.1:c.2377G>T	XP_024308729.1:p.Asp793Tyr
NM_015909.4:c.3016G>T MANE Select	NP_056993.2:p.Asp1006Tyr
NR_052013.3:n.3046G>T