Canonical Allele Identifier: CA8902514
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs759312619
ExAC: 18:13885215 T / TG
gnomAD v2: 18-13885215-T-TG
gnomAD v4: 18-13885216-T-TG
MyVariant Identifiers: chr18:g.13885215_13885216insG (hg19) chr18:g.13885216_13885217insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885217dup , CM000680.2:g.13885217dup GRCh38
NC_000018.9:g.13885216dup , CM000680.1:g.13885216dup GRCh37
NC_000018.8:g.13875216dup NCBI36
NG_011819.1:g.35320dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.302dup MANE Select ENSP00000333821.2:p.Ala102SerfsTer3
ENST00000327606.3:c.302dup ENSP00000333821.2:p.Ala102SerfsTer3
ENST00000399821.2:c.302dup ENSP00000382718.2:p.Ala102SerfsTer3
NM_000529.2:c.302dup MANE Select NP_000520.1:p.Ala102SerfsTer3
NM_001291911.1:c.302dup NP_001278840.1:p.Ala102SerfsTer3
XM_017025781.1:c.302dup XP_016881270.1:p.Ala102SerfsTer3
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