Canonical Allele Identifier: CA348297591

Gene: CKAP2L

Linked Data

• dbSNP Id: rs966834130
• gnomAD v4: 2-112756650-C-A
• MyVariant Identifiers: chr2:g.113514227C>A (hg19) ; chr2:g.112756650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756650C>A , CM000664.2:g.112756650C>A	GRCh38
NC_000002.11:g.113514227C>A , CM000664.1:g.113514227C>A	GRCh37
NC_000002.10:g.113230698C>A	NCBI36
NG_041820.1:g.13028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.721G>T MANE Select	ENSP00000305204.6:p.Val241Phe
ENST00000302450.10:c.721G>T	ENSP00000305204.6:p.Val241Phe
ENST00000435431.5:c.478+243G>T	ENSP00000414834.1:n.478+243G>T
NM_001304361.1:c.226G>T	NP_001291290.1:p.Val76Phe
NM_152515.4:c.721G>T	NP_689728.3:p.Val241Phe
NR_130712.1:n.557+243G>T
XM_011510666.1:c.226G>T	XP_011508968.1:p.Val76Phe
XM_011510666.2:c.226G>T	XP_011508968.1:p.Val76Phe
NM_152515.5:c.721G>T MANE Select	NP_689728.3:p.Val241Phe
NM_001304361.2:c.226G>T	NP_001291290.1:p.Val76Phe
NR_130712.2:n.489+243G>T