Canonical Allele Identifier: CA8902491
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 889350
ClinVar RCV Id: RCV001123217
dbSNP Id: rs764887426
ExAC: 18:13885115 C / T
gnomAD v2: 18-13885115-C-T
gnomAD v3: 18-13885116-C-T
gnomAD v4: 18-13885116-C-T
COSMIC: COSM124352
MyVariant Identifiers: chr18:g.13885115C>T (hg19) chr18:g.13885116C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885116C>T , CM000680.2:g.13885116C>T GRCh38
NC_000018.9:g.13885115C>T , CM000680.1:g.13885115C>T GRCh37
NC_000018.8:g.13875115C>T NCBI36
NG_011819.1:g.35421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.403G>A MANE Select ENSP00000333821.2:p.Ala135Thr
ENST00000327606.3:c.403G>A ENSP00000333821.2:p.Ala135Thr
NM_000529.2:c.403G>A MANE Select NP_000520.1:p.Ala135Thr
NM_001291911.1:c.403G>A NP_001278840.1:p.Ala135Thr
XM_017025781.1:c.403G>A XP_016881270.1:p.Ala135Thr
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