Canonical Allele Identifier: CA8902502

Gene: MC2R

Linked Data

• dbSNP Id: rs774181947
• ExAC: 18:13885148 TCA / T
• gnomAD v2: 18-13885148-TCA-T
• gnomAD v4: 18-13885149-TCA-T
• MyVariant Identifiers: chr18:g.13885149_13885150del (hg19) ; chr18:g.13885151_13885152del (hg38) ; chr18:g.13885150_13885151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885152_13885153del , CM000680.2:g.13885152_13885153del	GRCh38
NC_000018.9:g.13885151_13885152del , CM000680.1:g.13885151_13885152del	GRCh37
NC_000018.8:g.13875151_13875152del	NCBI36
NG_011819.1:g.35386_35387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.368_369del MANE Select	ENSP00000333821.2:p.Val123AspfsTer?
ENST00000327606.3:c.368_369del	ENSP00000333821.2:p.Val123AspfsTer?
ENST00000399821.2:c.368_369del	ENSP00000382718.2:p.Val123=
NM_000529.2:c.368_369del MANE Select	NP_000520.1:p.Val123AspfsTer?
NM_001291911.1:c.368_369del	NP_001278840.1:p.Val123AspfsTer?
XM_017025781.1:c.368_369del	XP_016881270.1:p.Val123AspfsTer?