Canonical Allele Identifier: CA628496346

Gene: MC2R

Linked Data

• dbSNP Id: rs140906835
• gnomAD v2: 18-13884487-A-T
• gnomAD v3: 18-13884488-A-T
• gnomAD v4: 18-13884488-A-T
• MyVariant Identifiers: chr18:g.13884487A>T (hg19) ; chr18:g.13884488A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884488A>T , CM000680.2:g.13884488A>T	GRCh38
NC_000018.9:g.13884487A>T , CM000680.1:g.13884487A>T	GRCh37
NC_000018.8:g.13874487A>T	NCBI36
NG_011819.1:g.36049T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.*137T>A MANE Select	ENSP00000333821.2:n.*137T>A
ENST00000327606.3:c.*137T>A	ENSP00000333821.2:n.*137T>A
NM_000529.2:c.*137T>A MANE Select	NP_000520.1:n.*137T>A
NM_001291911.1:c.*137T>A	NP_001278840.1:n.*137T>A
XM_017025781.1:c.*137T>A	XP_016881270.1:n.*137T>A