Canonical Allele Identifier: CA345883780

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358917C>G (hg19) ; chr2:g.15218793C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218793C>G , CM000664.2:g.15218793C>G	GRCh38
NC_000002.11:g.15358917C>G , CM000664.1:g.15358917C>G	GRCh37
NC_000002.10:g.15276368C>G	NCBI36
NG_032964.1:g.347556G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4398G>C
ENST00000700062.1:c.4426+13629G>C
ENST00000700063.1:c.923G>C
ENST00000700064.1:c.2268G>C
ENST00000281513.10:c.6412G>C MANE Select	ENSP00000281513.5:p.Ala2138Pro
ENST00000281513.9:c.6412G>C	ENSP00000281513.5:p.Ala2138Pro
ENST00000417461.5:c.512+13629G>C	ENSP00000392421.1:n.512+13629G>C
ENST00000442506.5:c.3555G>C
NM_015909.3:c.6412G>C	NP_056993.2:p.Ala2138Pro
NR_052013.2:n.6280+13629G>C
XM_011510357.1:c.6283G>C	XP_011508659.1:p.Ala2095Pro
XM_011510358.1:c.6412G>C	XP_011508660.1:p.Ala2138Pro
XM_011510359.1:c.5773G>C	XP_011508661.1:p.Ala1925Pro
XM_011510360.1:c.4213G>C	XP_011508662.1:p.Ala1405Pro
XM_011510361.1:c.4204G>C	XP_011508663.1:p.Ala1402Pro
XM_011510357.2:c.6283G>C	XP_011508659.1:p.Ala2095Pro
XM_011510358.2:c.6412G>C	XP_011508660.1:p.Ala2138Pro
XM_011510360.2:c.4213G>C	XP_011508662.1:p.Ala1405Pro
XM_011510361.2:c.4204G>C	XP_011508663.1:p.Ala1402Pro
XM_017004317.1:c.6412G>C	XP_016859806.1:p.Ala2138Pro
XM_024452961.1:c.5773G>C	XP_024308729.1:p.Ala1925Pro
NM_015909.4:c.6412G>C MANE Select	NP_056993.2:p.Ala2138Pro
NR_052013.3:n.6266+13629G>C