Canonical Allele Identifier: CA401993938
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045262093
gnomAD v3: 18-13884732-T-G
gnomAD v4: 18-13884732-T-G
MyVariant Identifiers: chr18:g.13884731T>G (hg19) chr18:g.13884732T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884732T>G , CM000680.2:g.13884732T>G GRCh38
NC_000018.9:g.13884731T>G , CM000680.1:g.13884731T>G GRCh37
NC_000018.8:g.13874731T>G NCBI36
NG_011819.1:g.35805A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.787A>C MANE Select ENSP00000333821.2:p.Met263Leu
ENST00000327606.3:c.787A>C ENSP00000333821.2:p.Met263Leu
NM_000529.2:c.787A>C MANE Select NP_000520.1:p.Met263Leu
NM_001291911.1:c.787A>C NP_001278840.1:p.Met263Leu
XM_017025781.1:c.787A>C XP_016881270.1:p.Met263Leu
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