Canonical Allele Identifier: CA8902567
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs771350532
ExAC: 18:13885552 T / G
gnomAD v2: 18-13885552-T-G
gnomAD v3: 18-13885553-T-G
gnomAD v4: 18-13885553-T-G
MyVariant Identifiers: chr18:g.13885552T>G (hg19) chr18:g.13885553T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885553T>G , CM000680.2:g.13885553T>G GRCh38
NC_000018.9:g.13885552T>G , CM000680.1:g.13885552T>G GRCh37
NC_000018.8:g.13875552T>G NCBI36
NG_011819.1:g.34984A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.-35A>C MANE Select ENSP00000333821.2:n.-35A>C
ENST00000327606.3:c.-35A>C ENSP00000333821.2:n.-35A>C
ENST00000399821.2:c.-35A>C ENSP00000382718.2:n.-35A>C
NM_000529.2:c.-35A>C MANE Select NP_000520.1:n.-35A>C
NM_001291911.1:c.-35A>C NP_001278840.1:n.-35A>C
XM_017025781.1:c.-35A>C XP_016881270.1:n.-35A>C
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