Canonical Allele Identifier: CA16206545
Gene: DCHS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154330458A>G , CM000666.2:g.154330458A>G GRCh38
NC_000004.11:g.155251610A>G , CM000666.1:g.155251610A>G GRCh37
NC_000004.10:g.155471060A>G NCBI36
NG_054879.1:g.166321T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357232.10:c.3731-748T>C MANE Select ENSP00000349768.5:n.3731-748T>C
ENST00000623607.4:n.2365-748T>C
ENST00000339452.2:c.3731-748T>C ENSP00000345062.1:n.3731-748T>C
ENST00000357232.8:c.2365-748T>C
ENST00000623607.3:c.2366-748T>C ENSP00000485514.1:n.2366-748T>C
NM_001142552.1:c.3731-748T>C NP_001136024.1:n.3731-748T>C
NM_017639.3:c.2366-748T>C NP_060109.2:n.2366-748T>C
XM_011532045.1:c.3731-748T>C XP_011530347.1:n.3731-748T>C
XM_011532046.1:c.1400-748T>C XP_011530348.1:n.1400-748T>C
XM_011532047.1:c.1292-748T>C XP_011530349.1:n.1292-748T>C
XM_011532048.1:c.-25+2020T>C XP_011530350.1:n.-25+2020T>C
NM_001358235.1:c.3731-748T>C NP_001345164.1:n.3731-748T>C
XM_011532046.2:c.1400-748T>C XP_011530348.1:n.1400-748T>C
NM_001142552.2:c.3731-748T>C NP_001136024.1:n.3731-748T>C
NM_001358235.2:c.3731-748T>C MANE Select NP_001345164.1:n.3731-748T>C
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