Canonical Allele Identifier: CA503248202
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs141290578
gnomAD v2: 18-13885041-C-T
gnomAD v3: 18-13885042-C-T
gnomAD v4: 18-13885042-C-T
COSMIC: COSM2884262
MyVariant Identifiers: chr18:g.13885041C>T (hg19) chr18:g.13885042C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885042C>T , CM000680.2:g.13885042C>T GRCh38
NC_000018.9:g.13885041C>T , CM000680.1:g.13885041C>T GRCh37
NC_000018.8:g.13875041C>T NCBI36
NG_011819.1:g.35495G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.477G>A MANE Select ENSP00000333821.2:p.Thr159=
ENST00000327606.3:c.477G>A ENSP00000333821.2:p.Thr159=
NM_000529.2:c.477G>A MANE Select NP_000520.1:p.Thr159=
NM_001291911.1:c.477G>A NP_001278840.1:p.Thr159=
XM_017025781.1:c.477G>A XP_016881270.1:p.Thr159=
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