Canonical Allele Identifier: CA2285919353

Gene: MC2R

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884958_13884959delinsGA , CM000680.2:g.13884958_13884959delinsGA	GRCh38
NC_000018.9:g.13884957_13884958delinsGA , CM000680.1:g.13884957_13884958delinsGA	GRCh37
NC_000018.8:g.13874957_13874958delinsGA	NCBI36
NG_011819.1:g.35578_35579delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.560_561delinsTC MANE Select	ENSP00000333821.2:p.Val187=
ENST00000327606.3:c.560_561delinsTC	ENSP00000333821.2:p.Val187=
NM_000529.2:c.560_561delinsTC MANE Select	NP_000520.1:p.Val187=
NM_001291911.1:c.560_561delinsTC	NP_001278840.1:p.Val187=
XM_017025781.1:c.560_561delinsTC	XP_016881270.1:p.Val187=