Canonical Allele Identifier: CA348297152

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1680538913
• gnomAD v4: 2-112756443-A-G
• MyVariant Identifiers: chr2:g.113514020A>G (hg19) ; chr2:g.112756443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756443A>G , CM000664.2:g.112756443A>G	GRCh38
NC_000002.11:g.113514020A>G , CM000664.1:g.113514020A>G	GRCh37
NC_000002.10:g.113230491A>G	NCBI36
NG_041820.1:g.13235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.928T>C MANE Select	ENSP00000305204.6:p.Tyr310His
ENST00000302450.10:c.928T>C	ENSP00000305204.6:p.Tyr310His
ENST00000435431.5:c.479-309T>C	ENSP00000414834.1:n.479-309T>C
NM_001304361.1:c.433T>C	NP_001291290.1:p.Tyr145His
NM_152515.4:c.928T>C	NP_689728.3:p.Tyr310His
NR_130712.1:n.558-309T>C
XM_011510666.1:c.433T>C	XP_011508968.1:p.Tyr145His
XM_011510666.2:c.433T>C	XP_011508968.1:p.Tyr145His
NM_152515.5:c.928T>C MANE Select	NP_689728.3:p.Tyr310His
NM_001304361.2:c.433T>C	NP_001291290.1:p.Tyr145His
NR_130712.2:n.490-309T>C