Canonical Allele Identifier: CA2597583716
Gene: HCRTR2 HGNC NCBI

Linked Data

gnomAD v3: 6-55269497-A-C
gnomAD v4: 6-55269497-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55269497A>C , CM000668.2:g.55269497A>C GRCh38
NC_000006.11:g.55134295A>C , CM000668.1:g.55134295A>C GRCh37
NC_000006.10:g.55242254A>C NCBI36
NG_012447.1:g.100225A>C
NG_012447.2:g.168038A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.762+5675A>C MANE Select ENSP00000359899.3:n.762+5675A>C
ENST00000370862.3:c.762+5675A>C ENSP00000359899.3:n.762+5675A>C
ENST00000615358.4:c.762+5675A>C ENSP00000477548.1:n.762+5675A>C
NM_001526.3:c.762+5675A>C NP_001517.2:n.762+5675A>C
XM_011514542.1:c.567+5675A>C XP_011512844.1:n.567+5675A>C
NM_001526.4:c.762+5675A>C NP_001517.2:n.762+5675A>C
XM_017010798.1:c.762+5675A>C XP_016866287.1:n.762+5675A>C
NM_001384272.1:c.762+5675A>C MANE Select NP_001371201.1:n.762+5675A>C
NM_001526.5:c.762+5675A>C NP_001517.2:n.762+5675A>C
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