Canonical Allele Identifier: CA401994198
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13884790G>C (hg19) chr18:g.13884791G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884791G>C , CM000680.2:g.13884791G>C GRCh38
NC_000018.9:g.13884790G>C , CM000680.1:g.13884790G>C GRCh37
NC_000018.8:g.13874790G>C NCBI36
NG_011819.1:g.35746C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.728C>G MANE Select ENSP00000333821.2:p.Thr243Arg
ENST00000327606.3:c.728C>G ENSP00000333821.2:p.Thr243Arg
NM_000529.2:c.728C>G MANE Select NP_000520.1:p.Thr243Arg
NM_001291911.1:c.728C>G NP_001278840.1:p.Thr243Arg
XM_017025781.1:c.728C>G XP_016881270.1:p.Thr243Arg
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