Canonical Allele Identifier: CA296828753
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs749293883
gnomAD v4: 18-13885010-T-C
MyVariant Identifiers: chr18:g.13885009T>C (hg19) chr18:g.13885010T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885010T>C , CM000680.2:g.13885010T>C GRCh38
NC_000018.9:g.13885009T>C , CM000680.1:g.13885009T>C GRCh37
NC_000018.8:g.13875009T>C NCBI36
NG_011819.1:g.35527A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.509A>G MANE Select ENSP00000333821.2:p.His170Arg
ENST00000327606.3:c.509A>G ENSP00000333821.2:p.His170Arg
NM_000529.2:c.509A>G MANE Select NP_000520.1:p.His170Arg
NM_001291911.1:c.509A>G NP_001278840.1:p.His170Arg
XM_017025781.1:c.509A>G XP_016881270.1:p.His170Arg
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