Canonical Allele Identifier: CA401994450
Gene: MC2R HGNC NCBI

Linked Data

COSMIC: COSM372882
MyVariant Identifiers: chr18:g.13884847A>T (hg19) chr18:g.13884848A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884848A>T , CM000680.2:g.13884848A>T GRCh38
NC_000018.9:g.13884847A>T , CM000680.1:g.13884847A>T GRCh37
NC_000018.8:g.13874847A>T NCBI36
NG_011819.1:g.35689T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.671T>A MANE Select ENSP00000333821.2:p.Leu224Gln
ENST00000327606.3:c.671T>A ENSP00000333821.2:p.Leu224Gln
NM_000529.2:c.671T>A MANE Select NP_000520.1:p.Leu224Gln
NM_001291911.1:c.671T>A NP_001278840.1:p.Leu224Gln
XM_017025781.1:c.671T>A XP_016881270.1:p.Leu224Gln
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