Canonical Allele Identifier: CA401994317
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1342957472
gnomAD v2: 18-13884817-G-C
gnomAD v4: 18-13884818-G-C
MyVariant Identifiers: chr18:g.13884817G>C (hg19) chr18:g.13884818G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884818G>C , CM000680.2:g.13884818G>C GRCh38
NC_000018.9:g.13884817G>C , CM000680.1:g.13884817G>C GRCh37
NC_000018.8:g.13874817G>C NCBI36
NG_011819.1:g.35719C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.701C>G MANE Select ENSP00000333821.2:p.Pro234Arg
ENST00000327606.3:c.701C>G ENSP00000333821.2:p.Pro234Arg
NM_000529.2:c.701C>G MANE Select NP_000520.1:p.Pro234Arg
NM_001291911.1:c.701C>G NP_001278840.1:p.Pro234Arg
XM_017025781.1:c.701C>G XP_016881270.1:p.Pro234Arg
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