Canonical Allele Identifier: CA8902560
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs749158832
ExAC: 18:13885527 T / C
gnomAD v2: 18-13885527-T-C
gnomAD v4: 18-13885528-T-C
MyVariant Identifiers: chr18:g.13885527T>C (hg19) chr18:g.13885528T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885528T>C , CM000680.2:g.13885528T>C GRCh38
NC_000018.9:g.13885527T>C , CM000680.1:g.13885527T>C GRCh37
NC_000018.8:g.13875527T>C NCBI36
NG_011819.1:g.35009A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.-10A>G MANE Select ENSP00000333821.2:n.-10A>G
ENST00000327606.3:c.-10A>G ENSP00000333821.2:n.-10A>G
ENST00000399821.2:c.-10A>G ENSP00000382718.2:n.-10A>G
NM_000529.2:c.-10A>G MANE Select NP_000520.1:n.-10A>G
NM_001291911.1:c.-10A>G NP_001278840.1:n.-10A>G
XM_017025781.1:c.-10A>G XP_016881270.1:n.-10A>G
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