Canonical Allele Identifier: CA401994768
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v3: 18-13884924-G-C
gnomAD v4: 18-13884924-G-C
MyVariant Identifiers: chr18:g.13884923G>C (hg19) chr18:g.13884924G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884924G>C , CM000680.2:g.13884924G>C GRCh38
NC_000018.9:g.13884923G>C , CM000680.1:g.13884923G>C GRCh37
NC_000018.8:g.13874923G>C NCBI36
NG_011819.1:g.35613C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.595C>G MANE Select ENSP00000333821.2:p.Leu199Val
ENST00000327606.3:c.595C>G ENSP00000333821.2:p.Leu199Val
NM_000529.2:c.595C>G MANE Select NP_000520.1:p.Leu199Val
NM_001291911.1:c.595C>G NP_001278840.1:p.Leu199Val
XM_017025781.1:c.595C>G XP_016881270.1:p.Leu199Val
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