Canonical Allele Identifier: CA428554379

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1430372216
• gnomAD v2: 2-113514435-A-G
• gnomAD v3: 2-112756858-A-G
• gnomAD v4: 2-112756858-A-G
• MyVariant Identifiers: chr2:g.113514435A>G (hg19) ; chr2:g.112756858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756858A>G , CM000664.2:g.112756858A>G	GRCh38
NC_000002.11:g.113514435A>G , CM000664.1:g.113514435A>G	GRCh37
NC_000002.10:g.113230906A>G	NCBI36
NG_041820.1:g.12820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.513T>C MANE Select	ENSP00000305204.6:p.Val171=
ENST00000302450.10:c.513T>C	ENSP00000305204.6:p.Val171=
ENST00000435431.5:c.478+35T>C	ENSP00000414834.1:n.478+35T>C
ENST00000481732.5:n.474T>C
NM_001304361.1:c.18T>C	NP_001291290.1:p.Val6=
NM_152515.4:c.513T>C	NP_689728.3:p.Val171=
NR_130712.1:n.557+35T>C
XM_011510666.1:c.18T>C	XP_011508968.1:p.Val6=
XM_011510666.2:c.18T>C	XP_011508968.1:p.Val6=
NM_152515.5:c.513T>C MANE Select	NP_689728.3:p.Val171=
NM_001304361.2:c.18T>C	NP_001291290.1:p.Val6=
NR_130712.2:n.489+35T>C