Canonical Allele Identifier: CA522908979

Gene: CPT2

Linked Data

• dbSNP Id: rs1557716915
• gnomAD v2: 1-53675657-T-C
• gnomAD v4: 1-53209985-T-C
• MyVariant Identifiers: chr1:g.53675657_53675659delinsCTA (hg19) ; chr1:g.53209985_53209987delinsCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53209985T>C , CM000663.2:g.53209985T>C	GRCh38
NC_000001.10:g.53675657T>C , CM000663.1:g.53675657T>C	GRCh37
NC_000001.9:g.53448245T>C	NCBI36
NG_008035.1:g.18557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.341-30T>C MANE Select	ENSP00000360541.3:n.341-30T>C
ENST00000635862.1:c.341-30T>C	ENSP00000490867.1:n.341-30T>C
ENST00000635888.1:c.*327-30T>C	ENSP00000490042.1:n.*327-30T>C
ENST00000636239.1:c.234-30T>C	ENSP00000490066.1:n.234-30T>C
ENST00000636867.1:c.341-30T>C	ENSP00000489631.1:n.341-30T>C
ENST00000636891.1:c.341-30T>C	ENSP00000490399.1:n.341-30T>C
ENST00000636935.1:c.341-3279T>C	ENSP00000489757.1:n.341-3279T>C
ENST00000637252.1:c.341-30T>C	ENSP00000490492.1:n.341-30T>C
ENST00000637726.1:n.2511T>C
ENST00000638135.1:c.153-30T>C	ENSP00000489756.1:n.153-30T>C
ENST00000371486.3:c.341-30T>C	ENSP00000360541.3:n.341-30T>C
NM_000098.2:c.341-30T>C	NP_000089.1:n.341-30T>C
XM_005270484.1:c.341-30T>C	XP_005270541.1:n.341-30T>C
NM_001330589.1:c.341-30T>C	NP_001317518.1:n.341-30T>C
NM_000098.3:c.341-30T>C MANE Select	NP_000089.1:n.341-30T>C
NM_001330589.2:c.341-30T>C	NP_001317518.1:n.341-30T>C