Canonical Allele Identifier: CA16040770
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371707
ClinVar RCV Id: RCV000409646 RCV000410325 RCV000411662
dbSNP Id: rs1057517473
gnomAD v4: 1-53211321-T-G
MyVariant Identifiers: chr1:g.53676993T>G (hg19) chr1:g.53211321T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211321T>G , CM000663.2:g.53211321T>G GRCh38
NC_000001.10:g.53676993T>G , CM000663.1:g.53676993T>G GRCh37
NC_000001.9:g.53449581T>G NCBI36
NG_008035.1:g.19893T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.1645+2T>G MANE Select ENSP00000360541.3:n.1645+2T>G
ENST00000635862.1:c.1576+71T>G ENSP00000490867.1:n.1576+71T>G
ENST00000635888.1:c.*1631+2T>G ENSP00000490042.1:n.*1631+2T>G
ENST00000636239.1:c.*1292+2T>G ENSP00000490066.1:n.*1292+2T>G
ENST00000636867.1:c.1576+71T>G ENSP00000489631.1:n.1576+71T>G
ENST00000636891.1:c.1647T>G ENSP00000490399.1:p.Gly549=
ENST00000636935.1:c.341-1943T>G ENSP00000489757.1:n.341-1943T>G
ENST00000637252.1:c.1645+2T>G ENSP00000490492.1:n.1645+2T>G
ENST00000637726.1:n.3847T>G
ENST00000638135.1:c.*1292+2T>G ENSP00000489756.1:n.*1292+2T>G
ENST00000371486.3:c.1645+2T>G ENSP00000360541.3:n.1645+2T>G
NM_000098.2:c.1645+2T>G NP_000089.1:n.1645+2T>G
XM_005270484.1:c.1576+71T>G XP_005270541.1:n.1576+71T>G
NM_001330589.1:c.1576+71T>G NP_001317518.1:n.1576+71T>G
NM_000098.3:c.1645+2T>G MANE Select NP_000089.1:n.1645+2T>G
NM_001330589.2:c.1576+71T>G NP_001317518.1:n.1576+71T>G
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