Canonical Allele Identifier: CA346066454

Gene: POMC

Linked Data

• ClinVar Variation Id: 2003812
• ClinVar RCV Id: RCV002811458
• MyVariant Identifiers: chr2:g.25384155C>T (hg19) ; chr2:g.25161286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161286C>T , CM000664.2:g.25161286C>T	GRCh38
NC_000002.11:g.25384155C>T , CM000664.1:g.25384155C>T	GRCh37
NC_000002.10:g.25237659C>T	NCBI36
NG_008997.1:g.12405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.599G>A MANE Select	ENSP00000379170.2:p.Gly200Glu
ENST00000264708.7:c.599G>A	ENSP00000264708.3:p.Gly200Glu
ENST00000380794.5:c.599G>A	ENSP00000370171.1:p.Gly200Glu
ENST00000395826.6:c.599G>A	ENSP00000379170.2:p.Gly200Glu
ENST00000405623.5:c.599G>A	ENSP00000384092.1:p.Gly200Glu
ENST00000449220.1:c.599G>A	ENSP00000387993.1:p.Gly200Glu
NM_000939.2:c.599G>A	NP_000930.1:p.Gly200Glu
NM_001035256.1:c.599G>A	NP_001030333.1:p.Gly200Glu
XM_011532917.1:c.599G>A	XP_011531219.1:p.Gly200Glu
NM_000939.3:c.599G>A	NP_000930.1:p.Gly200Glu
NM_001035256.2:c.599G>A	NP_001030333.1:p.Gly200Glu
NM_001319204.1:c.599G>A	NP_001306133.1:p.Gly200Glu
NM_001319205.1:c.599G>A	NP_001306134.1:p.Gly200Glu
NM_000939.4:c.599G>A MANE Select	NP_000930.1:p.Gly200Glu
NM_001319204.2:c.599G>A	NP_001306133.1:p.Gly200Glu
NM_001319205.2:c.599G>A	NP_001306134.1:p.Gly200Glu
NM_001035256.3:c.599G>A	NP_001030333.1:p.Gly200Glu