Canonical Allele Identifier: CA340393555

Gene: CPT2

Linked Data

• dbSNP Id: rs1336449715
• gnomAD v2: 1-53676094-A-C
• gnomAD v3: 1-53210422-A-C
• gnomAD v4: 1-53210422-A-C
• COSMIC: COSM3419320
• MyVariant Identifiers: chr1:g.53676094A>C (hg19) ; chr1:g.53210422A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210422A>C , CM000663.2:g.53210422A>C	GRCh38
NC_000001.10:g.53676094A>C , CM000663.1:g.53676094A>C	GRCh37
NC_000001.9:g.53448682A>C	NCBI36
NG_008035.1:g.18994A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.748A>C MANE Select	ENSP00000360541.3:p.Asn250His
ENST00000635862.1:c.748A>C	ENSP00000490867.1:p.Asn250His
ENST00000635888.1:c.*734A>C	ENSP00000490042.1:n.*734A>C
ENST00000636239.1:c.*395A>C	ENSP00000490066.1:n.*395A>C
ENST00000636867.1:c.748A>C	ENSP00000489631.1:p.Asn250His
ENST00000636891.1:c.748A>C	ENSP00000490399.1:p.Asn250His
ENST00000636935.1:c.341-2842A>C	ENSP00000489757.1:n.341-2842A>C
ENST00000637252.1:c.748A>C	ENSP00000490492.1:p.Asn250His
ENST00000637726.1:n.2948A>C
ENST00000638135.1:c.*395A>C	ENSP00000489756.1:n.*395A>C
ENST00000371486.3:c.748A>C	ENSP00000360541.3:p.Asn250His
NM_000098.2:c.748A>C	NP_000089.1:p.Asn250His
XM_005270484.1:c.748A>C	XP_005270541.1:p.Asn250His
NM_001330589.1:c.748A>C	NP_001317518.1:p.Asn250His
NM_000098.3:c.748A>C MANE Select	NP_000089.1:p.Asn250His
NM_001330589.2:c.748A>C	NP_001317518.1:p.Asn250His