Canonical Allele Identifier: CA1836827

Gene: CKAP2L

Linked Data

• dbSNP Id: rs773135591
• ExAC: 2:113514381 G / A
• gnomAD v2: 2-113514381-G-A
• gnomAD v3: 2-112756804-G-A
• gnomAD v4: 2-112756804-G-A
• MyVariant Identifiers: chr2:g.113514381G>A (hg19) ; chr2:g.112756804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756804G>A , CM000664.2:g.112756804G>A	GRCh38
NC_000002.11:g.113514381G>A , CM000664.1:g.113514381G>A	GRCh37
NC_000002.10:g.113230852G>A	NCBI36
NG_041820.1:g.12874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.567C>T MANE Select	ENSP00000305204.6:p.Leu189=
ENST00000302450.10:c.567C>T	ENSP00000305204.6:p.Leu189=
ENST00000435431.5:c.478+89C>T	ENSP00000414834.1:n.478+89C>T
ENST00000481732.5:n.528C>T
NM_001304361.1:c.72C>T	NP_001291290.1:p.Leu24=
NM_152515.4:c.567C>T	NP_689728.3:p.Leu189=
NR_130712.1:n.557+89C>T
XM_011510666.1:c.72C>T	XP_011508968.1:p.Leu24=
XM_011510666.2:c.72C>T	XP_011508968.1:p.Leu24=
NM_152515.5:c.567C>T MANE Select	NP_689728.3:p.Leu189=
NM_001304361.2:c.72C>T	NP_001291290.1:p.Leu24=
NR_130712.2:n.489+89C>T