Canonical Allele Identifier: CA14955333
Gene: CECR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17418497T>C , CM000684.2:g.17418497T>C GRCh38
NC_000022.10:g.17897544T>C , CM000684.1:g.17897544T>C GRCh37
NC_000022.9:g.16277544T>C NCBI36
NG_033989.1:g.63549T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262608.13:c.126+48588T>C MANE Select ENSP00000262608.11:n.126+48588T>C
ENST00000342247.10:c.126+48588T>C ENSP00000341219.6:n.126+48588T>C
ENST00000400585.7:c.-364+58474T>C ENSP00000383428.2:n.-364+58474T>C
ENST00000262608.12:c.-364+48588T>C ENSP00000262608.10:n.-364+48588T>C
ENST00000342247.9:c.126+48588T>C ENSP00000341219.6:n.126+48588T>C
ENST00000400585.6:c.-364+58474T>C ENSP00000383428.2:n.-364+58474T>C
NM_001290046.1:c.-364+58474T>C NP_001276975.1:n.-364+58474T>C
NM_001290047.1:c.126+48588T>C NP_001276976.1:n.126+48588T>C
XM_011546128.1:c.126+48588T>C XP_011544430.1:n.126+48588T>C
XM_011546129.1:c.126+48588T>C XP_011544431.1:n.126+48588T>C
XM_011546131.1:c.3+31069T>C XP_011544433.1:n.3+31069T>C
XM_011546132.1:c.126+48588T>C XP_011544434.1:n.126+48588T>C
XR_951200.1:n.205+48588T>C
XR_951201.1:n.204+48588T>C
XM_011546128.2:c.126+48588T>C XP_011544430.1:n.126+48588T>C
XM_011546129.2:c.126+48588T>C XP_011544431.1:n.126+48588T>C
XM_011546132.2:c.126+48588T>C XP_011544434.1:n.126+48588T>C
XM_017028785.1:c.126+48588T>C XP_016884274.1:n.126+48588T>C
XR_951200.2:n.232+48588T>C
XR_951201.2:n.232+48588T>C
NM_001290047.2:c.126+48588T>C MANE Select NP_001276976.1:n.126+48588T>C
NM_001290046.2:c.-364+58474T>C NP_001276975.1:n.-364+58474T>C
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