Canonical Allele Identifier: CA381827214

Gene: C2CD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74095303A>G , CM000673.2:g.74095303A>G	GRCh38
NC_000011.9:g.73806348A>G , CM000673.1:g.73806348A>G	GRCh37
NC_000011.8:g.73483996A>G	NCBI36
NG_041791.1:g.80717T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001286577.2:c.3085T>C MANE Select	NP_001273506.1:p.Cys1029Arg
ENST00000334126.12:c.3085T>C MANE Select	ENSP00000334379.7:p.Cys1029Arg
NM_001286577.1:c.3085T>C	NP_001273506.1:p.Cys1029Arg
NM_015531.5:c.3085T>C	NP_056346.3:p.Cys1029Arg
NM_015531.6:c.3085T>C	NP_056346.3:p.Cys1029Arg
ENST00000313663.11:c.3085T>C	ENSP00000323339.7:p.Cys1029Arg
ENST00000334126.11:c.3085T>C	ENSP00000334379.7:p.Cys1029Arg
ENST00000414160.7:c.3085T>C	ENSP00000388750.3:p.Cys1029Arg
ENST00000442398.7:c.3085T>C	ENSP00000404577.3:p.Cys1029Arg
ENST00000538361.2:c.3085T>C	ENSP00000441742.2:p.Cys1029Arg
ENST00000679415.1:c.*2533T>C	ENSP00000505672.1:n.*2533T>C
ENST00000679906.1:c.3085T>C	ENSP00000505021.1:p.Cys1029Arg
ENST00000680231.1:c.3085T>C	ENSP00000505413.1:p.Cys1029Arg
ENST00000680306.1:n.2661T>C
ENST00000680665.1:c.3085T>C	ENSP00000505527.1:p.Cys1029Arg
ENST00000680839.1:c.*2042T>C	ENSP00000506002.1:n.*2042T>C
ENST00000681143.1:c.3085T>C	ENSP00000505970.1:p.Cys1029Arg
ENST00000681291.1:c.*2537T>C	ENSP00000505182.1:n.*2537T>C
ENST00000681310.1:c.3085T>C	ENSP00000506236.1:p.Cys1029Arg
ENST00000681385.1:c.*2537T>C	ENSP00000505069.1:n.*2537T>C
ENST00000681609.1:c.*1653T>C	ENSP00000505133.1:n.*1653T>C
ENST00000681811.1:c.3085T>C	ENSP00000506315.1:p.Cys1029Arg
ENST00000681829.1:c.3085T>C	ENSP00000505375.1:p.Cys1029Arg
ENST00000681924.1:c.3085T>C	ENSP00000505101.1:p.Cys1029Arg
XM_005273893.3:c.3085T>C	XP_005273950.1:p.Cys1029Arg
XM_005273896.3:c.2536T>C	XP_005273953.1:p.Cys846Arg
XM_011544903.1:c.3115T>C	XP_011543205.1:p.Cys1039Arg
XM_011544904.1:c.3115T>C	XP_011543206.1:p.Cys1039Arg
XM_011544905.1:c.3115T>C	XP_011543207.1:p.Cys1039Arg
XM_011544906.1:c.1192T>C	XP_011543208.1:p.Cys398Arg
XM_011544907.1:c.3115T>C	XP_011543209.1:p.Cys1039Arg
XM_011544908.1:c.409T>C	XP_011543210.1:p.Cys137Arg
XM_011544909.1:c.289T>C	XP_011543211.1:p.Cys97Arg
XM_017017510.1:c.3115T>C	XP_016872999.1:p.Cys1039Arg
XM_017017511.2:c.2536T>C	XP_016873000.1:p.Cys846Arg
XM_017017512.1:c.1546T>C	XP_016873001.1:p.Cys516Arg
XM_017017513.1:c.1192T>C	XP_016873002.1:p.Cys398Arg
XM_017017514.1:c.3115T>C	XP_016873003.1:p.Cys1039Arg
XM_017017515.2:c.409T>C	XP_016873004.1:p.Cys137Arg
XM_017017516.1:c.289T>C	XP_016873005.1:p.Cys97Arg
XR_001747826.1:n.3211T>C
XR_001747827.1:n.3211T>C
XR_001747828.2:n.3211T>C
XR_949869.1:n.3211T>C
XR_949870.1:n.3211T>C
XR_949871.1:n.3211T>C
XR_949872.1:n.3211T>C
XR_949874.1:n.3211T>C