Canonical Allele Identifier: CA8902571
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs775474804
ExAC: 18:13885562 T / C
gnomAD v2: 18-13885562-T-C
gnomAD v4: 18-13885563-T-C
MyVariant Identifiers: chr18:g.13885562T>C (hg19) chr18:g.13885563T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885563T>C , CM000680.2:g.13885563T>C GRCh38
NC_000018.9:g.13885562T>C , CM000680.1:g.13885562T>C GRCh37
NC_000018.8:g.13875562T>C NCBI36
NG_011819.1:g.34974A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.-45A>G MANE Select ENSP00000333821.2:n.-45A>G
ENST00000327606.3:c.-45A>G ENSP00000333821.2:n.-45A>G
ENST00000399821.2:c.-45A>G ENSP00000382718.2:n.-45A>G
NM_000529.2:c.-45A>G MANE Select NP_000520.1:n.-45A>G
NM_001291911.1:c.-45A>G NP_001278840.1:n.-45A>G
XM_017025781.1:c.-45A>G XP_016881270.1:n.-45A>G
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