Canonical Allele Identifier: CA424870513

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564505A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424381A>G , CM000664.2:g.15424381A>G	GRCh38
NC_000002.11:g.15564505A>G , CM000664.1:g.15564505A>G	GRCh37
NC_000002.10:g.15481956A>G	NCBI36
NG_032964.1:g.141968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.608T>C
ENST00000700062.1:c.608T>C
ENST00000700065.1:n.2524T>C
ENST00000700066.1:c.2028T>C	ENSP00000514780.1:p.Leu676=
ENST00000281513.10:c.2511T>C MANE Select	ENSP00000281513.5:p.Leu837=
ENST00000281513.9:c.2511T>C	ENSP00000281513.5:p.Leu837=
ENST00000441755.5:c.12T>C	ENSP00000396501.1:p.Leu4=
ENST00000442506.5:c.14T>C
NM_015909.3:c.2511T>C	NP_056993.2:p.Leu837=
NR_052013.2:n.2555T>C
XM_011510357.1:c.2382T>C	XP_011508659.1:p.Leu794=
XM_011510358.1:c.2511T>C	XP_011508660.1:p.Leu837=
XM_011510359.1:c.1872T>C	XP_011508661.1:p.Leu624=
XM_011510360.1:c.312T>C	XP_011508662.1:p.Leu104=
XM_011510361.1:c.303T>C	XP_011508663.1:p.Leu101=
XM_011510357.2:c.2382T>C	XP_011508659.1:p.Leu794=
XM_011510358.2:c.2511T>C	XP_011508660.1:p.Leu837=
XM_011510360.2:c.312T>C	XP_011508662.1:p.Leu104=
XM_011510361.2:c.303T>C	XP_011508663.1:p.Leu101=
XM_017004317.1:c.2511T>C	XP_016859806.1:p.Leu837=
XM_024452961.1:c.1872T>C	XP_024308729.1:p.Leu624=
NM_015909.4:c.2511T>C MANE Select	NP_056993.2:p.Leu837=
NR_052013.3:n.2541T>C