Canonical Allele Identifier: CA1555270

Gene: POMC

Linked Data

• ClinVar Variation Id: 2634648
• ClinVar RCV Id: RCV004531735
• dbSNP Id: rs765946518
• ExAC: 2:25384180 CG / C
• gnomAD v2: 2-25384180-CG-C
• gnomAD v3: 2-25161311-CG-C
• gnomAD v4: 2-25161311-CG-C
• MyVariant Identifiers: chr2:g.25384181del (hg19) ; chr2:g.25161312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161315del , CM000664.2:g.25161315del	GRCh38
NC_000002.11:g.25384184del , CM000664.1:g.25384184del	GRCh37
NC_000002.10:g.25237688del	NCBI36
NG_008997.1:g.12379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.573del MANE Select	ENSP00000379170.2:p.Asp192ThrfsTer?
ENST00000264708.7:c.573del	ENSP00000264708.3:p.Asp192ThrfsTer?
ENST00000380794.5:c.573del	ENSP00000370171.1:p.Asp192ThrfsTer?
ENST00000395826.6:c.573del	ENSP00000379170.2:p.Asp192ThrfsTer?
ENST00000405623.5:c.573del	ENSP00000384092.1:p.Asp192ThrfsTer?
ENST00000449220.1:c.573del	ENSP00000387993.1:p.Asp192ThrfsTer?
NM_000939.2:c.573del	NP_000930.1:p.Asp192ThrfsTer?
NM_001035256.1:c.573del	NP_001030333.1:p.Asp192ThrfsTer?
XM_011532917.1:c.573del	XP_011531219.1:p.Asp192ThrfsTer?
NM_000939.3:c.573del	NP_000930.1:p.Asp192ThrfsTer?
NM_001035256.2:c.573del	NP_001030333.1:p.Asp192ThrfsTer?
NM_001319204.1:c.573del	NP_001306133.1:p.Asp192ThrfsTer?
NM_001319205.1:c.573del	NP_001306134.1:p.Asp192ThrfsTer?
NM_000939.4:c.573del MANE Select	NP_000930.1:p.Asp192ThrfsTer?
NM_001319204.2:c.573del	NP_001306133.1:p.Asp192ThrfsTer?
NM_001319205.2:c.573del	NP_001306134.1:p.Asp192ThrfsTer?
NM_001035256.3:c.573del	NP_001030333.1:p.Asp192ThrfsTer?