Canonical Allele Identifier: CA346066849

Gene: POMC

Linked Data

• ClinVar Variation Id: 2618213
• ClinVar RCV Id: RCV003374602
• dbSNP Id: rs924300699
• gnomAD v3: 2-25161367-G-C
• gnomAD v4: 2-25161367-G-C
• MyVariant Identifiers: chr2:g.25384236G>C (hg19) ; chr2:g.25161367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161367G>C , CM000664.2:g.25161367G>C	GRCh38
NC_000002.11:g.25384236G>C , CM000664.1:g.25384236G>C	GRCh37
NC_000002.10:g.25237740G>C	NCBI36
NG_008997.1:g.12324C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.518C>G MANE Select	ENSP00000379170.2:p.Pro173Arg
ENST00000264708.7:c.518C>G	ENSP00000264708.3:p.Pro173Arg
ENST00000380794.5:c.518C>G	ENSP00000370171.1:p.Pro173Arg
ENST00000395826.6:c.518C>G	ENSP00000379170.2:p.Pro173Arg
ENST00000405623.5:c.518C>G	ENSP00000384092.1:p.Pro173Arg
ENST00000449220.1:c.518C>G	ENSP00000387993.1:p.Pro173Arg
NM_000939.2:c.518C>G	NP_000930.1:p.Pro173Arg
NM_001035256.1:c.518C>G	NP_001030333.1:p.Pro173Arg
XM_011532917.1:c.518C>G	XP_011531219.1:p.Pro173Arg
NM_000939.3:c.518C>G	NP_000930.1:p.Pro173Arg
NM_001035256.2:c.518C>G	NP_001030333.1:p.Pro173Arg
NM_001319204.1:c.518C>G	NP_001306133.1:p.Pro173Arg
NM_001319205.1:c.518C>G	NP_001306134.1:p.Pro173Arg
NM_000939.4:c.518C>G MANE Select	NP_000930.1:p.Pro173Arg
NM_001319204.2:c.518C>G	NP_001306133.1:p.Pro173Arg
NM_001319205.2:c.518C>G	NP_001306134.1:p.Pro173Arg
NM_001035256.3:c.518C>G	NP_001030333.1:p.Pro173Arg