Canonical Allele Identifier: CA8902515
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs200889006
ExAC: 18:13885217 T / G
gnomAD v2: 18-13885217-T-G
gnomAD v4: 18-13885218-T-G
MyVariant Identifiers: chr18:g.13885217T>G (hg19) chr18:g.13885218T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885218T>G , CM000680.2:g.13885218T>G GRCh38
NC_000018.9:g.13885217T>G , CM000680.1:g.13885217T>G GRCh37
NC_000018.8:g.13875217T>G NCBI36
NG_011819.1:g.35319A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.301A>C MANE Select ENSP00000333821.2:p.Thr101Pro
ENST00000327606.3:c.301A>C ENSP00000333821.2:p.Thr101Pro
ENST00000399821.2:c.301A>C ENSP00000382718.2:p.Thr101Pro
NM_000529.2:c.301A>C MANE Select NP_000520.1:p.Thr101Pro
NM_001291911.1:c.301A>C NP_001278840.1:p.Thr101Pro
XM_017025781.1:c.301A>C XP_016881270.1:p.Thr101Pro
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