Canonical Allele Identifier: CA428554362

Gene: CKAP2L

Linked Data

• MyVariant Identifiers: chr2:g.113514422A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756845A>G , CM000664.2:g.112756845A>G	GRCh38
NC_000002.11:g.113514422A>G , CM000664.1:g.113514422A>G	GRCh37
NC_000002.10:g.113230893A>G	NCBI36
NG_041820.1:g.12833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.526T>C MANE Select	ENSP00000305204.6:p.Leu176=
ENST00000302450.10:c.526T>C	ENSP00000305204.6:p.Leu176=
ENST00000435431.5:c.478+48T>C	ENSP00000414834.1:n.478+48T>C
ENST00000481732.5:n.487T>C
NM_001304361.1:c.31T>C	NP_001291290.1:p.Leu11=
NM_152515.4:c.526T>C	NP_689728.3:p.Leu176=
NR_130712.1:n.557+48T>C
XM_011510666.1:c.31T>C	XP_011508968.1:p.Leu11=
XM_011510666.2:c.31T>C	XP_011508968.1:p.Leu11=
NM_152515.5:c.526T>C MANE Select	NP_689728.3:p.Leu176=
NM_001304361.2:c.31T>C	NP_001291290.1:p.Leu11=
NR_130712.2:n.489+48T>C