Canonical Allele Identifier: CA205065

Gene: POMC

Linked Data

• ClinVar Variation Id: 211936
• ClinVar RCV Id: RCV000192320 ; RCV000953171 ; RCV001142527 ; RCV004541249
• dbSNP Id: rs80326661
• ExAC: 2:25384113 T / C
• gnomAD v2: 2-25384113-T-C
• gnomAD v3: 2-25161244-T-C
• gnomAD v4: 2-25161244-T-C
• MyVariant Identifiers: chr2:g.25384113T>C (hg19) ; chr2:g.25161244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161244T>C , CM000664.2:g.25161244T>C	GRCh38
NC_000002.11:g.25384113T>C , CM000664.1:g.25384113T>C	GRCh37
NC_000002.10:g.25237617T>C	NCBI36
NG_008997.1:g.12447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.641A>G MANE Select	ENSP00000379170.2:p.Glu214Gly
ENST00000264708.7:c.641A>G	ENSP00000264708.3:p.Glu214Gly
ENST00000380794.5:c.641A>G	ENSP00000370171.1:p.Glu214Gly
ENST00000395826.6:c.641A>G	ENSP00000379170.2:p.Glu214Gly
ENST00000405623.5:c.641A>G	ENSP00000384092.1:p.Glu214Gly
ENST00000449220.1:c.641A>G	ENSP00000387993.1:p.Glu214Gly
NM_000939.2:c.641A>G	NP_000930.1:p.Glu214Gly
NM_001035256.1:c.641A>G	NP_001030333.1:p.Glu214Gly
XM_011532917.1:c.641A>G	XP_011531219.1:p.Glu214Gly
NM_000939.3:c.641A>G	NP_000930.1:p.Glu214Gly
NM_001035256.2:c.641A>G	NP_001030333.1:p.Glu214Gly
NM_001319204.1:c.641A>G	NP_001306133.1:p.Glu214Gly
NM_001319205.1:c.641A>G	NP_001306134.1:p.Glu214Gly
NM_000939.4:c.641A>G MANE Select	NP_000930.1:p.Glu214Gly
NM_001319204.2:c.641A>G	NP_001306133.1:p.Glu214Gly
NM_001319205.2:c.641A>G	NP_001306134.1:p.Glu214Gly
NM_001035256.3:c.641A>G	NP_001030333.1:p.Glu214Gly