Canonical Allele Identifier: CA345890044

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564536G>C (hg19) ; chr2:g.15424412G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424412G>C , CM000664.2:g.15424412G>C	GRCh38
NC_000002.11:g.15564536G>C , CM000664.1:g.15564536G>C	GRCh37
NC_000002.10:g.15481987G>C	NCBI36
NG_032964.1:g.141937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.577C>G
ENST00000700062.1:c.577C>G
ENST00000700065.1:n.2493C>G
ENST00000700066.1:c.1997C>G	ENSP00000514780.1:p.Pro666Arg
ENST00000281513.10:c.2480C>G MANE Select	ENSP00000281513.5:p.Pro827Arg
ENST00000281513.9:c.2480C>G	ENSP00000281513.5:p.Pro827Arg
NM_015909.3:c.2480C>G	NP_056993.2:p.Pro827Arg
NR_052013.2:n.2524C>G
XM_011510357.1:c.2351C>G	XP_011508659.1:p.Pro784Arg
XM_011510358.1:c.2480C>G	XP_011508660.1:p.Pro827Arg
XM_011510359.1:c.1841C>G	XP_011508661.1:p.Pro614Arg
XM_011510360.1:c.281C>G	XP_011508662.1:p.Pro94Arg
XM_011510361.1:c.272C>G	XP_011508663.1:p.Pro91Arg
XM_011510357.2:c.2351C>G	XP_011508659.1:p.Pro784Arg
XM_011510358.2:c.2480C>G	XP_011508660.1:p.Pro827Arg
XM_011510360.2:c.281C>G	XP_011508662.1:p.Pro94Arg
XM_011510361.2:c.272C>G	XP_011508663.1:p.Pro91Arg
XM_017004317.1:c.2480C>G	XP_016859806.1:p.Pro827Arg
XM_024452961.1:c.1841C>G	XP_024308729.1:p.Pro614Arg
NM_015909.4:c.2480C>G MANE Select	NP_056993.2:p.Pro827Arg
NR_052013.3:n.2510C>G