Canonical Allele Identifier: CA8902512
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 2442403
ClinVar RCV Id: RCV003149175
dbSNP Id: rs768093045
ExAC: 18:13885211 C / T
gnomAD v2: 18-13885211-C-T
gnomAD v3: 18-13885212-C-T
gnomAD v4: 18-13885212-C-T
MyVariant Identifiers: chr18:g.13885211C>T (hg19) chr18:g.13885212C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885212C>T , CM000680.2:g.13885212C>T GRCh38
NC_000018.9:g.13885211C>T , CM000680.1:g.13885211C>T GRCh37
NC_000018.8:g.13875211C>T NCBI36
NG_011819.1:g.35325G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.307G>A MANE Select ENSP00000333821.2:p.Asp103Asn
ENST00000327606.3:c.307G>A ENSP00000333821.2:p.Asp103Asn
ENST00000399821.2:c.307G>A ENSP00000382718.2:p.Asp103Asn
NM_000529.2:c.307G>A MANE Select NP_000520.1:p.Asp103Asn
NM_001291911.1:c.307G>A NP_001278840.1:p.Asp103Asn
XM_017025781.1:c.307G>A XP_016881270.1:p.Asp103Asn
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