Canonical Allele Identifier: CA8902523
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs745738941
ExAC: 18:13885250 C / T
gnomAD v2: 18-13885250-C-T
gnomAD v4: 18-13885251-C-T
MyVariant Identifiers: chr18:g.13885250C>T (hg19) chr18:g.13885251C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885251C>T , CM000680.2:g.13885251C>T GRCh38
NC_000018.9:g.13885250C>T , CM000680.1:g.13885250C>T GRCh37
NC_000018.8:g.13875250C>T NCBI36
NG_011819.1:g.35286G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.268G>A MANE Select ENSP00000333821.2:p.Gly90Ser
ENST00000327606.3:c.268G>A ENSP00000333821.2:p.Gly90Ser
ENST00000399821.2:c.268G>A ENSP00000382718.2:p.Gly90Ser
NM_000529.2:c.268G>A MANE Select NP_000520.1:p.Gly90Ser
NM_001291911.1:c.268G>A NP_001278840.1:p.Gly90Ser
XM_017025781.1:c.268G>A XP_016881270.1:p.Gly90Ser
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