Canonical Allele Identifier: CA345889897

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564515A>G (hg19) ; chr2:g.15424391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424391A>G , CM000664.2:g.15424391A>G	GRCh38
NC_000002.11:g.15564515A>G , CM000664.1:g.15564515A>G	GRCh37
NC_000002.10:g.15481966A>G	NCBI36
NG_032964.1:g.141958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.598T>C
ENST00000700062.1:c.598T>C
ENST00000700065.1:n.2514T>C
ENST00000700066.1:c.2018T>C	ENSP00000514780.1:p.Met673Thr
ENST00000281513.10:c.2501T>C MANE Select	ENSP00000281513.5:p.Met834Thr
ENST00000281513.9:c.2501T>C	ENSP00000281513.5:p.Met834Thr
ENST00000441755.5:c.2T>C	ENSP00000396501.1:p.Met1Thr
ENST00000442506.5:c.4T>C
NM_015909.3:c.2501T>C	NP_056993.2:p.Met834Thr
NR_052013.2:n.2545T>C
XM_011510357.1:c.2372T>C	XP_011508659.1:p.Met791Thr
XM_011510358.1:c.2501T>C	XP_011508660.1:p.Met834Thr
XM_011510359.1:c.1862T>C	XP_011508661.1:p.Met621Thr
XM_011510360.1:c.302T>C	XP_011508662.1:p.Met101Thr
XM_011510361.1:c.293T>C	XP_011508663.1:p.Met98Thr
XM_011510357.2:c.2372T>C	XP_011508659.1:p.Met791Thr
XM_011510358.2:c.2501T>C	XP_011508660.1:p.Met834Thr
XM_011510360.2:c.302T>C	XP_011508662.1:p.Met101Thr
XM_011510361.2:c.293T>C	XP_011508663.1:p.Met98Thr
XM_017004317.1:c.2501T>C	XP_016859806.1:p.Met834Thr
XM_024452961.1:c.1862T>C	XP_024308729.1:p.Met621Thr
NM_015909.4:c.2501T>C MANE Select	NP_056993.2:p.Met834Thr
NR_052013.3:n.2531T>C