Canonical Allele Identifier: CA2645706558
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53196891-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196891G>T , CM000663.2:g.53196891G>T GRCh38
NC_000001.10:g.53662563G>T , CM000663.1:g.53662563G>T GRCh37
NC_000001.9:g.53435151G>T NCBI36
NG_008035.1:g.5463G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.-53G>T MANE Select ENSP00000360541.3:n.-53G>T
ENST00000468572.2:n.33G>T
ENST00000635862.1:c.-53G>T ENSP00000490867.1:n.-53G>T
ENST00000635888.1:c.-53G>T ENSP00000490042.1:n.-53G>T
ENST00000636239.1:c.-53G>T ENSP00000490066.1:n.-53G>T
ENST00000636867.1:c.-53G>T ENSP00000489631.1:n.-53G>T
ENST00000636891.1:c.-53G>T ENSP00000490399.1:n.-53G>T
ENST00000636935.1:c.-53G>T ENSP00000489757.1:n.-53G>T
ENST00000637252.1:c.-53G>T ENSP00000490492.1:n.-53G>T
ENST00000371486.3:c.-53G>T ENSP00000360541.3:n.-53G>T
ENST00000468572.1:n.33G>T
NM_000098.2:c.-53G>T NP_000089.1:n.-53G>T
XM_005270484.1:c.-53G>T XP_005270541.1:n.-53G>T
NM_001330589.1:c.-53G>T NP_001317518.1:n.-53G>T
NM_000098.3:c.-53G>T MANE Select NP_000089.1:n.-53G>T
NM_001330589.2:c.-53G>T NP_001317518.1:n.-53G>T