Canonical Allele Identifier: CA8902508

Gene: MC2R

Linked Data

• dbSNP Id: rs548348876
• ExAC: 18:13885191 C / T
• gnomAD v2: 18-13885191-C-T
• gnomAD v3: 18-13885192-C-T
• gnomAD v4: 18-13885192-C-T
• MyVariant Identifiers: chr18:g.13885191C>T (hg19) ; chr18:g.13885192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885192C>T , CM000680.2:g.13885192C>T	GRCh38
NC_000018.9:g.13885191C>T , CM000680.1:g.13885191C>T	GRCh37
NC_000018.8:g.13875191C>T	NCBI36
NG_011819.1:g.35345G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.327G>A MANE Select	ENSP00000333821.2:p.Leu109=
ENST00000327606.3:c.327G>A	ENSP00000333821.2:p.Leu109=
ENST00000399821.2:c.327G>A	ENSP00000382718.2:p.Leu109=
NM_000529.2:c.327G>A MANE Select	NP_000520.1:p.Leu109=
NM_001291911.1:c.327G>A	NP_001278840.1:p.Leu109=
XM_017025781.1:c.327G>A	XP_016881270.1:p.Leu109=