Canonical Allele Identifier: CA401995886
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13885376C>T (hg19) chr18:g.13885377C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885377C>T , CM000680.2:g.13885377C>T GRCh38
NC_000018.9:g.13885376C>T , CM000680.1:g.13885376C>T GRCh37
NC_000018.8:g.13875376C>T NCBI36
NG_011819.1:g.35160G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.142G>A MANE Select ENSP00000333821.2:p.Ala48Thr
ENST00000327606.3:c.142G>A ENSP00000333821.2:p.Ala48Thr
ENST00000399821.2:c.142G>A ENSP00000382718.2:p.Ala48Thr
NM_000529.2:c.142G>A MANE Select NP_000520.1:p.Ala48Thr
NM_001291911.1:c.142G>A NP_001278840.1:p.Ala48Thr
XM_017025781.1:c.142G>A XP_016881270.1:p.Ala48Thr
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