Canonical Allele Identifier: CA8902438
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs779727134
ExAC: 18:13884901 T / G
gnomAD v2: 18-13884901-T-G
gnomAD v3: 18-13884902-T-G
gnomAD v4: 18-13884902-T-G
MyVariant Identifiers: chr18:g.13884901T>G (hg19) chr18:g.13884902T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884902T>G , CM000680.2:g.13884902T>G GRCh38
NC_000018.9:g.13884901T>G , CM000680.1:g.13884901T>G GRCh37
NC_000018.8:g.13874901T>G NCBI36
NG_011819.1:g.35635A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.617A>C MANE Select ENSP00000333821.2:p.Lys206Thr
ENST00000327606.3:c.617A>C ENSP00000333821.2:p.Lys206Thr
NM_000529.2:c.617A>C MANE Select NP_000520.1:p.Lys206Thr
NM_001291911.1:c.617A>C NP_001278840.1:p.Lys206Thr
XM_017025781.1:c.617A>C XP_016881270.1:p.Lys206Thr
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