Canonical Allele Identifier: CA401995044
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1468565785
gnomAD v2: 18-13884988-G-A
gnomAD v4: 18-13884989-G-A
MyVariant Identifiers: chr18:g.13884988G>A (hg19) chr18:g.13884989G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884989G>A , CM000680.2:g.13884989G>A GRCh38
NC_000018.9:g.13884988G>A , CM000680.1:g.13884988G>A GRCh37
NC_000018.8:g.13874988G>A NCBI36
NG_011819.1:g.35548C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.530C>T MANE Select ENSP00000333821.2:p.Thr177Ile
ENST00000327606.3:c.530C>T ENSP00000333821.2:p.Thr177Ile
NM_000529.2:c.530C>T MANE Select NP_000520.1:p.Thr177Ile
NM_001291911.1:c.530C>T NP_001278840.1:p.Thr177Ile
XM_017025781.1:c.530C>T XP_016881270.1:p.Thr177Ile
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