Canonical Allele Identifier: CA438380782
Gene: CC2D2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.15511842A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15510219A>T , CM000666.2:g.15510219A>T GRCh38
NC_000004.11:g.15511842A>T , CM000666.1:g.15511842A>T GRCh37
NC_000004.10:g.15120940A>T NCBI36
NG_013035.1:g.45354A>T , LRG_697:g.45354A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.519A>T ENSP00000374303.8:p.Arg173=
ENST00000424120.6:c.519A>T MANE Select ENSP00000403465.1:p.Arg173=
ENST00000503292.6:c.519A>T ENSP00000421809.1:p.Arg173=
ENST00000506643.5:c.372A>T ENSP00000422931.2:p.Arg124=
ENST00000512702.6:c.519A>T ENSP00000422875.2:p.Arg173=
ENST00000514450.3:c.519A>T ENSP00000502062.1:p.Arg173=
ENST00000634028.2:c.372A>T ENSP00000488669.2:p.Arg124=
ENST00000650860.2:c.372A>T ENSP00000498775.1:p.Arg124=
ENST00000651385.1:c.372A>T ENSP00000499005.1:p.Arg124=
ENST00000674945.1:c.372A>T ENSP00000502333.1:p.Arg124=
ENST00000676337.1:c.372A>T ENSP00000501728.1:p.Arg124=
ENST00000424120.5:c.519A>T ENSP00000403465.1:p.Arg173=
ENST00000503292.5:c.519A>T ENSP00000421809.1:p.Arg173=
ENST00000512702.5:c.519A>T ENSP00000422875.1:p.Arg173=
ENST00000513811.5:n.699A>T
ENST00000514450.2:n.674A>T
ENST00000634028.1:c.502A>T ENSP00000488669.1:n.502A>T
NM_001080522.2:c.519A>T , LRG_697t1:c.519A>T NP_001073991.2:p.Arg173=
XM_005248177.1:c.519A>T XP_005248234.1:p.Arg173=
XM_011513869.1:c.519A>T XP_011512171.1:p.Arg173=
XM_011513870.1:c.519A>T XP_011512172.1:p.Arg173=
XM_011513871.1:c.372A>T XP_011512173.1:p.Arg124=
XM_011513872.1:c.519A>T XP_011512174.1:p.Arg173=
XM_011513873.1:c.519A>T XP_011512175.1:p.Arg173=
XM_011513872.3:c.519A>T XP_011512174.1:p.Arg173=
XM_017008482.1:c.372A>T XP_016863971.1:p.Arg124=
XR_001741296.1:n.719A>T
NM_001378615.1:c.519A>T MANE Select NP_001365544.1:p.Arg173=
NM_001378617.1:c.372A>T NP_001365546.1:p.Arg124=