Canonical Allele Identifier: CA475665321

Gene: C2CD3

Linked Data

• dbSNP Id: rs587777653
• gnomAD v3: 11-74168485-G-T
• gnomAD v4: 11-74168485-G-T
• MyVariant Identifiers: chr11:g.73879530G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74168485G>T , CM000673.2:g.74168485G>T	GRCh38
NC_000011.9:g.73879530G>T , CM000673.1:g.73879530G>T	GRCh37
NC_000011.8:g.73557178G>T	NCBI36
NG_041791.1:g.7535C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334126.12:c.184C>A MANE Select	ENSP00000334379.7:p.Arg62=
ENST00000414160.7:c.184C>A	ENSP00000388750.3:p.Arg62=
ENST00000442398.7:c.184C>A	ENSP00000404577.3:p.Arg62=
ENST00000535954.2:c.214C>A	ENSP00000439343.2:p.Arg72=
ENST00000538361.2:c.184C>A	ENSP00000441742.2:p.Arg62=
ENST00000539061.6:c.184C>A	ENSP00000445933.2:p.Arg62=
ENST00000541922.2:n.269C>A
ENST00000679415.1:c.184C>A	ENSP00000505672.1:p.Arg62=
ENST00000679906.1:c.184C>A	ENSP00000505021.1:p.Arg62=
ENST00000680173.1:n.260C>A
ENST00000680231.1:c.184C>A	ENSP00000505413.1:p.Arg62=
ENST00000680306.1:n.255C>A
ENST00000680645.1:c.184C>A	ENSP00000506347.1:p.Arg62=
ENST00000680665.1:c.184C>A	ENSP00000505527.1:p.Arg62=
ENST00000680718.1:c.184C>A	ENSP00000505340.1:p.Arg62=
ENST00000680839.1:c.184C>A	ENSP00000506002.1:p.Arg62=
ENST00000681000.1:n.453C>A
ENST00000681143.1:c.184C>A	ENSP00000505970.1:p.Arg62=
ENST00000681291.1:c.184C>A	ENSP00000505182.1:p.Arg62=
ENST00000681310.1:c.184C>A	ENSP00000506236.1:p.Arg62=
ENST00000681345.1:c.184C>A	ENSP00000504924.1:p.Arg62=
ENST00000681385.1:c.184C>A	ENSP00000505069.1:p.Arg62=
ENST00000681609.1:c.184C>A	ENSP00000505133.1:p.Arg62=
ENST00000681811.1:c.184C>A	ENSP00000506315.1:p.Arg62=
ENST00000681829.1:c.184C>A	ENSP00000505375.1:p.Arg62=
ENST00000681924.1:c.184C>A	ENSP00000505101.1:p.Arg62=
ENST00000313663.11:c.184C>A	ENSP00000323339.7:p.Arg62=
ENST00000334126.11:c.184C>A	ENSP00000334379.7:p.Arg62=
ENST00000415191.6:n.349C>A
ENST00000535954.1:c.310C>A	ENSP00000439343.1:p.Arg104=
ENST00000539061.5:c.184C>A	ENSP00000445933.1:p.Arg62=
ENST00000541922.1:n.390C>A
ENST00000542930.1:n.272C>A
ENST00000544293.1:n.260C>A
NM_001286577.1:c.184C>A	NP_001273506.1:p.Arg62=
NM_015531.5:c.184C>A	NP_056346.3:p.Arg62=
XM_005273893.3:c.184C>A	XP_005273950.1:p.Arg62=
XM_011544903.1:c.214C>A	XP_011543205.1:p.Arg72=
XM_011544904.1:c.214C>A	XP_011543206.1:p.Arg72=
XM_011544905.1:c.214C>A	XP_011543207.1:p.Arg72=
XM_011544907.1:c.214C>A	XP_011543209.1:p.Arg72=
XR_949869.1:n.310C>A
XR_949870.1:n.310C>A
XR_949871.1:n.310C>A
XR_949872.1:n.310C>A
XR_949874.1:n.310C>A
XM_017017510.1:c.214C>A	XP_016872999.1:p.Arg72=
XM_017017511.2:c.-208C>A	XP_016873000.1:n.-208C>A
XM_017017512.1:c.-1208C>A	XP_016873001.1:n.-1208C>A
XM_017017514.1:c.214C>A	XP_016873003.1:p.Arg72=
XR_001747826.1:n.310C>A
XR_001747827.1:n.310C>A
XR_001747828.2:n.310C>A
NM_015531.6:c.184C>A	NP_056346.3:p.Arg62=
NM_001286577.2:c.184C>A MANE Select	NP_001273506.1:p.Arg62=