Canonical Allele Identifier: CA401996136
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1343439368
gnomAD v2: 18-13885494-A-C
gnomAD v4: 18-13885495-A-C
MyVariant Identifiers: chr18:g.13885494A>C (hg19) chr18:g.13885495A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885495A>C , CM000680.2:g.13885495A>C GRCh38
NC_000018.9:g.13885494A>C , CM000680.1:g.13885494A>C GRCh37
NC_000018.8:g.13875494A>C NCBI36
NG_011819.1:g.35042T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.24T>G MANE Select ENSP00000333821.2:p.Tyr8Ter
ENST00000327606.3:c.24T>G ENSP00000333821.2:p.Tyr8Ter
ENST00000399821.2:c.24T>G ENSP00000382718.2:p.Tyr8Ter
NM_000529.2:c.24T>G MANE Select NP_000520.1:p.Tyr8Ter
NM_001291911.1:c.24T>G NP_001278840.1:p.Tyr8Ter
XM_017025781.1:c.24T>G XP_016881270.1:p.Tyr8Ter
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