Canonical Allele Identifier: CA345884491

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358989C>A (hg19) ; chr2:g.15218865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218865C>A , CM000664.2:g.15218865C>A	GRCh38
NC_000002.11:g.15358989C>A , CM000664.1:g.15358989C>A	GRCh37
NC_000002.10:g.15276440C>A	NCBI36
NG_032964.1:g.347484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4326G>T
ENST00000700062.1:c.4426+13557G>T
ENST00000700063.1:c.851G>T
ENST00000700064.1:c.2196G>T
ENST00000281513.10:c.6340G>T MANE Select	ENSP00000281513.5:p.Gly2114Trp
ENST00000281513.9:c.6340G>T	ENSP00000281513.5:p.Gly2114Trp
ENST00000417461.5:c.512+13557G>T	ENSP00000392421.1:n.512+13557G>T
ENST00000442506.5:c.3483G>T
NM_015909.3:c.6340G>T	NP_056993.2:p.Gly2114Trp
NR_052013.2:n.6280+13557G>T
XM_011510357.1:c.6211G>T	XP_011508659.1:p.Gly2071Trp
XM_011510358.1:c.6340G>T	XP_011508660.1:p.Gly2114Trp
XM_011510359.1:c.5701G>T	XP_011508661.1:p.Gly1901Trp
XM_011510360.1:c.4141G>T	XP_011508662.1:p.Gly1381Trp
XM_011510361.1:c.4132G>T	XP_011508663.1:p.Gly1378Trp
XM_011510357.2:c.6211G>T	XP_011508659.1:p.Gly2071Trp
XM_011510358.2:c.6340G>T	XP_011508660.1:p.Gly2114Trp
XM_011510360.2:c.4141G>T	XP_011508662.1:p.Gly1381Trp
XM_011510361.2:c.4132G>T	XP_011508663.1:p.Gly1378Trp
XM_017004317.1:c.6340G>T	XP_016859806.1:p.Gly2114Trp
XM_024452961.1:c.5701G>T	XP_024308729.1:p.Gly1901Trp
NM_015909.4:c.6340G>T MANE Select	NP_056993.2:p.Gly2114Trp
NR_052013.3:n.6266+13557G>T