Canonical Allele Identifier: CA401994019
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1256103643
gnomAD v2: 18-13884751-G-T
gnomAD v4: 18-13884752-G-T
MyVariant Identifiers: chr18:g.13884751G>T (hg19) chr18:g.13884752G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884752G>T , CM000680.2:g.13884752G>T GRCh38
NC_000018.9:g.13884751G>T , CM000680.1:g.13884751G>T GRCh37
NC_000018.8:g.13874751G>T NCBI36
NG_011819.1:g.35785C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.767C>A MANE Select ENSP00000333821.2:p.Ser256Tyr
ENST00000327606.3:c.767C>A ENSP00000333821.2:p.Ser256Tyr
NM_000529.2:c.767C>A MANE Select NP_000520.1:p.Ser256Tyr
NM_001291911.1:c.767C>A NP_001278840.1:p.Ser256Tyr
XM_017025781.1:c.767C>A XP_016881270.1:p.Ser256Tyr
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