Canonical Allele Identifier: CA8902462
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs200978771
ExAC: 18:13885036 G / C
gnomAD v2: 18-13885036-G-C
gnomAD v3: 18-13885037-G-C
gnomAD v4: 18-13885037-G-C
MyVariant Identifiers: chr18:g.13885036G>C (hg19) chr18:g.13885037G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885037G>C , CM000680.2:g.13885037G>C GRCh38
NC_000018.9:g.13885036G>C , CM000680.1:g.13885036G>C GRCh37
NC_000018.8:g.13875036G>C NCBI36
NG_011819.1:g.35500C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.482C>G MANE Select ENSP00000333821.2:p.Thr161Ser
ENST00000327606.3:c.482C>G ENSP00000333821.2:p.Thr161Ser
NM_000529.2:c.482C>G MANE Select NP_000520.1:p.Thr161Ser
NM_001291911.1:c.482C>G NP_001278840.1:p.Thr161Ser
XM_017025781.1:c.482C>G XP_016881270.1:p.Thr161Ser
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