Canonical Allele Identifier: CA2581337883
Gene: MC2R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884514C>G , CM000680.2:g.13884514C>G GRCh38
NC_000018.9:g.13884513C>G , CM000680.1:g.13884513C>G GRCh37
NC_000018.8:g.13874513C>G NCBI36
NG_011819.1:g.36023G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*111G>C MANE Select ENSP00000333821.2:n.*111G>C
ENST00000327606.3:c.*111G>C ENSP00000333821.2:n.*111G>C
NM_000529.2:c.*111G>C MANE Select NP_000520.1:n.*111G>C
NM_001291911.1:c.*111G>C NP_001278840.1:n.*111G>C
XM_017025781.1:c.*111G>C XP_016881270.1:n.*111G>C
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