Canonical Allele Identifier: CA8634956
Gene: CALCOCO2 HGNC NCBI

Linked Data

dbSNP Id: rs2303015

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48852546T>C , CM000679.2:g.48852546T>C GRCh38
NC_000017.10:g.46929908T>C , CM000679.1:g.46929908T>C GRCh37
NC_000017.9:g.44284907T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000258947.8:c.743T>C MANE Select ENSP00000258947.3:p.Val248Ala
ENST00000258947.7:c.743T>C ENSP00000258947.3:p.Val248Ala
ENST00000416445.6:c.617T>C ENSP00000406974.2:p.Val206Ala
ENST00000448105.6:c.815T>C ENSP00000398523.2:p.Val272Ala
ENST00000506971.1:n.207T>C
ENST00000508679.5:c.527T>C ENSP00000423437.1:p.Val176Ala
ENST00000509112.1:n.67T>C
ENST00000509507.5:c.806T>C ENSP00000424352.1:p.Val269Ala
ENST00000511816.1:n.463T>C
ENST00000513119.5:c.527T>C ENSP00000425090.1:p.Val176Ala
ENST00000514006.1:n.188T>C
ENST00000514962.5:n.573T>C
NM_001261390.1:c.815T>C NP_001248319.1:p.Val272Ala
NM_001261391.1:c.806T>C NP_001248320.1:p.Val269Ala
NM_001261393.1:c.617T>C NP_001248322.1:p.Val206Ala
NM_001261395.1:c.527T>C NP_001248324.1:p.Val176Ala
NM_005831.4:c.743T>C NP_005822.1:p.Val248Ala
XM_011524181.1:c.743T>C XP_011522483.1:p.Val248Ala
NM_001261390.2:c.815T>C NP_001248319.1:p.Val272Ala
NM_001261391.2:c.806T>C NP_001248320.1:p.Val269Ala
NM_001261393.2:c.617T>C NP_001248322.1:p.Val206Ala
NM_001261395.2:c.527T>C NP_001248324.1:p.Val176Ala
NM_005831.5:c.743T>C MANE Select NP_005822.1:p.Val248Ala