Canonical Allele Identifier: CA401993535
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1371576560
gnomAD v4: 18-13884639-T-C
MyVariant Identifiers: chr18:g.13884638T>C (hg19) chr18:g.13884639T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884639T>C , CM000680.2:g.13884639T>C GRCh38
NC_000018.9:g.13884638T>C , CM000680.1:g.13884638T>C GRCh37
NC_000018.8:g.13874638T>C NCBI36
NG_011819.1:g.35898A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.880A>G MANE Select ENSP00000333821.2:p.Ser294Gly
ENST00000327606.3:c.880A>G ENSP00000333821.2:p.Ser294Gly
NM_000529.2:c.880A>G MANE Select NP_000520.1:p.Ser294Gly
NM_001291911.1:c.880A>G NP_001278840.1:p.Ser294Gly
XM_017025781.1:c.880A>G XP_016881270.1:p.Ser294Gly
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