Canonical Allele Identifier: CA9882851

Gene: CTSA NEURL2

Linked Data

• ClinVar Variation Id: 338513
• ClinVar RCV Id: RCV000364953 ; RCV001691964
• dbSNP Id: rs2868362
• ExAC: 20:44519643 G / A
• gnomAD v2: 20-44519643-G-A
• gnomAD v3: 20-45891004-G-A
• gnomAD v4: 20-45891004-G-A
• MyVariant Identifiers: chr20:g.44519643G>A (hg19) ; chr20:g.45891004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891004G>A , CM000682.2:g.45891004G>A	GRCh38
NC_000020.10:g.44519643G>A , CM000682.1:g.44519643G>A	GRCh37
NC_000020.9:g.43953050G>A	NCBI36
NG_008291.1:g.5053G>A
NG_033108.1:g.5284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.42G>A (CTSA)
ENST00000606066.3:n.42G>A (CTSA)
ENST00000607187.3:n.42G>A (CTSA)
ENST00000678622.2:n.42G>A (CTSA)
ENST00000678691.2:n.42G>A (CTSA)
ENST00000678988.2:n.664G>A (CTSA)
ENST00000679053.2:n.42G>A (CTSA)
ENST00000679343.2:n.42G>A (CTSA)
ENST00000684198.1:n.42G>A (CTSA)
ENST00000372484.8:c.-322G>A (CTSA)	ENSP00000361562.3:n.-322G>A
ENST00000372518.5:c.-13C>T (NEURL2) MANE Select	ENSP00000361596.4:n.-13C>T
ENST00000676526.1:c.-322G>A (CTSA)	ENSP00000504209.1:n.-322G>A
ENST00000677394.1:c.-221G>A (CTSA)	ENSP00000504790.1:n.-221G>A
ENST00000678078.1:c.-322G>A (CTSA)	ENSP00000502993.1:n.-322G>A
ENST00000678988.1:n.664G>A (CTSA)
ENST00000372518.4:c.-13C>T (NEURL2)	ENSP00000361596.4:n.-13C>T
ENST00000606788.5:c.-322G>A (CTSA)	ENSP00000476235.1:n.-322G>A
NM_000308.2:c.-322G>A (CTSA)	NP_000299.2:n.-322G>A
NM_000308.3:c.-322G>A (CTSA)	NP_000299.2:n.-322G>A
NM_001127695.1:c.-422G>A (CTSA)	NP_001121167.1:n.-422G>A
NM_001127695.2:c.-422G>A (CTSA)	NP_001121167.1:n.-422G>A
NM_001167594.1:c.-322G>A (CTSA)	NP_001161066.1:n.-322G>A
NM_001167594.2:c.-322G>A (CTSA)	NP_001161066.1:n.-322G>A
NM_001278535.1:c.-13C>T (NEURL2)	NP_001265464.1:n.-13C>T
NM_080749.3:c.-13C>T (NEURL2)	NP_542787.1:n.-13C>T
NR_133656.1:n.861G>A (CTSA)
NM_001278535.2:c.-13C>T (NEURL2)	NP_001265464.1:n.-13C>T
NM_080749.4:c.-13C>T (NEURL2) MANE Select	NP_542787.1:n.-13C>T