Canonical Allele Identifier: CA2574921482

Gene: C2CD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74084976A>G , CM000673.2:g.74084976A>G	GRCh38
NC_000011.9:g.73796021A>G , CM000673.1:g.73796021A>G	GRCh37
NC_000011.8:g.73473669A>G	NCBI36
NG_041791.1:g.91044T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334126.12:c.3911-6T>C MANE Select	ENSP00000334379.7:n.3911-6T>C
ENST00000414160.7:c.3911-6T>C	ENSP00000388750.3:n.3911-6T>C
ENST00000442398.7:c.3911-6T>C	ENSP00000404577.3:n.3911-6T>C
ENST00000538361.2:c.3911-6T>C	ENSP00000441742.2:n.3911-6T>C
ENST00000679415.1:c.*3359-6T>C	ENSP00000505672.1:n.*3359-6T>C
ENST00000679906.1:c.3911-6T>C	ENSP00000505021.1:n.3911-6T>C
ENST00000680231.1:c.3911-6T>C	ENSP00000505413.1:n.3911-6T>C
ENST00000680665.1:c.3911-6T>C	ENSP00000505527.1:n.3911-6T>C
ENST00000680839.1:c.*2868-6T>C	ENSP00000506002.1:n.*2868-6T>C
ENST00000681143.1:c.3911-6T>C	ENSP00000505970.1:n.3911-6T>C
ENST00000681291.1:c.*3363-6T>C	ENSP00000505182.1:n.*3363-6T>C
ENST00000681310.1:c.3911-6T>C	ENSP00000506236.1:n.3911-6T>C
ENST00000681385.1:c.*3363-6T>C	ENSP00000505069.1:n.*3363-6T>C
ENST00000681609.1:c.*2479-6T>C	ENSP00000505133.1:n.*2479-6T>C
ENST00000681811.1:c.3911-6T>C	ENSP00000506315.1:n.3911-6T>C
ENST00000681829.1:c.3911-6T>C	ENSP00000505375.1:n.3911-6T>C
ENST00000681924.1:c.4007-6T>C	ENSP00000505101.1:n.4007-6T>C
ENST00000313663.11:c.3911-6T>C	ENSP00000323339.7:n.3911-6T>C
ENST00000334126.11:c.3911-6T>C	ENSP00000334379.7:n.3911-6T>C
ENST00000414160.6:c.335-6T>C	ENSP00000388750.2:n.335-6T>C
ENST00000442398.6:c.179-6T>C	ENSP00000404577.2:n.179-6T>C
ENST00000535645.1:n.79-6T>C
NM_001286577.1:c.3911-6T>C	NP_001273506.1:n.3911-6T>C
NM_015531.5:c.3911-6T>C	NP_056346.3:n.3911-6T>C
XM_005273893.3:c.3911-6T>C	XP_005273950.1:n.3911-6T>C
XM_005273896.3:c.3362-6T>C	XP_005273953.1:n.3362-6T>C
XM_011544903.1:c.3941-6T>C	XP_011543205.1:n.3941-6T>C
XM_011544904.1:c.3941-6T>C	XP_011543206.1:n.3941-6T>C
XM_011544905.1:c.3941-6T>C	XP_011543207.1:n.3941-6T>C
XM_011544906.1:c.2018-6T>C	XP_011543208.1:n.2018-6T>C
XM_011544907.1:c.3941-6T>C	XP_011543209.1:n.3941-6T>C
XM_011544908.1:c.1235-6T>C	XP_011543210.1:n.1235-6T>C
XM_011544909.1:c.1115-6T>C	XP_011543211.1:n.1115-6T>C
XR_949869.1:n.4037-6T>C
XR_949870.1:n.4037-6T>C
XR_949871.1:n.4037-6T>C
XR_949872.1:n.4037-6T>C
XR_949874.1:n.4037-6T>C
XM_017017510.1:c.3941-6T>C	XP_016872999.1:n.3941-6T>C
XM_017017511.2:c.3362-6T>C	XP_016873000.1:n.3362-6T>C
XM_017017512.1:c.2372-6T>C	XP_016873001.1:n.2372-6T>C
XM_017017513.1:c.2018-6T>C	XP_016873002.1:n.2018-6T>C
XM_017017514.1:c.3941-6T>C	XP_016873003.1:n.3941-6T>C
XM_017017515.2:c.1235-6T>C	XP_016873004.1:n.1235-6T>C
XM_017017516.1:c.1115-6T>C	XP_016873005.1:n.1115-6T>C
XR_001747826.1:n.4037-6T>C
XR_001747827.1:n.4037-6T>C
XR_001747828.2:n.4037-6T>C
NM_015531.6:c.3911-6T>C	NP_056346.3:n.3911-6T>C
NM_001286577.2:c.3911-6T>C MANE Select	NP_001273506.1:n.3911-6T>C