Canonical Allele Identifier: CA8902500
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs267607231
ExAC: 18:13885142 C / T
gnomAD v2: 18-13885142-C-T
MyVariant Identifiers: chr18:g.13885142C>T (hg19) chr18:g.13885143C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885143C>T , CM000680.2:g.13885143C>T GRCh38
NC_000018.9:g.13885142C>T , CM000680.1:g.13885142C>T GRCh37
NC_000018.8:g.13875142C>T NCBI36
NG_011819.1:g.35394G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.376G>A MANE Select ENSP00000333821.2:p.Ala126Thr
ENST00000327606.3:c.376G>A ENSP00000333821.2:p.Ala126Thr
NM_000529.2:c.376G>A MANE Select NP_000520.1:p.Ala126Thr
NM_001291911.1:c.376G>A NP_001278840.1:p.Ala126Thr
XM_017025781.1:c.376G>A XP_016881270.1:p.Ala126Thr
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