Canonical Allele Identifier: CA401995229
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1383119237
gnomAD v2: 18-13885067-G-A
gnomAD v3: 18-13885068-G-A
gnomAD v4: 18-13885068-G-A
COSMIC: COSM1666734
MyVariant Identifiers: chr18:g.13885067G>A (hg19) chr18:g.13885068G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885068G>A , CM000680.2:g.13885068G>A GRCh38
NC_000018.9:g.13885067G>A , CM000680.1:g.13885067G>A GRCh37
NC_000018.8:g.13875067G>A NCBI36
NG_011819.1:g.35469C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.451C>T MANE Select ENSP00000333821.2:p.Leu151Phe
ENST00000327606.3:c.451C>T ENSP00000333821.2:p.Leu151Phe
NM_000529.2:c.451C>T MANE Select NP_000520.1:p.Leu151Phe
NM_001291911.1:c.451C>T NP_001278840.1:p.Leu151Phe
XM_017025781.1:c.451C>T XP_016881270.1:p.Leu151Phe
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