Canonical Allele Identifier: CA346067782

Gene: POMC

Linked Data

• ClinVar Variation Id: 2629131
• ClinVar RCV Id: RCV004529728
• dbSNP Id: rs1276202170
• gnomAD v2: 2-25387542-A-G
• gnomAD v4: 2-25164673-A-G
• MyVariant Identifiers: chr2:g.25387542A>G (hg19) ; chr2:g.25164673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164673A>G , CM000664.2:g.25164673A>G	GRCh38
NC_000002.11:g.25387542A>G , CM000664.1:g.25387542A>G	GRCh37
NC_000002.10:g.25241046A>G	NCBI36
NG_008997.1:g.9018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.100T>C MANE Select	ENSP00000379170.2:p.Cys34Arg
ENST00000264708.7:c.100T>C	ENSP00000264708.3:p.Cys34Arg
ENST00000380794.5:c.100T>C	ENSP00000370171.1:p.Cys34Arg
ENST00000395826.6:c.100T>C	ENSP00000379170.2:p.Cys34Arg
ENST00000405623.5:c.100T>C	ENSP00000384092.1:p.Cys34Arg
ENST00000449220.1:c.100T>C	ENSP00000387993.1:p.Cys34Arg
NM_000939.2:c.100T>C	NP_000930.1:p.Cys34Arg
NM_001035256.1:c.100T>C	NP_001030333.1:p.Cys34Arg
XM_011532917.1:c.100T>C	XP_011531219.1:p.Cys34Arg
NM_000939.3:c.100T>C	NP_000930.1:p.Cys34Arg
NM_001035256.2:c.100T>C	NP_001030333.1:p.Cys34Arg
NM_001319204.1:c.100T>C	NP_001306133.1:p.Cys34Arg
NM_001319205.1:c.100T>C	NP_001306134.1:p.Cys34Arg
NM_000939.4:c.100T>C MANE Select	NP_000930.1:p.Cys34Arg
NM_001319204.2:c.100T>C	NP_001306133.1:p.Cys34Arg
NM_001319205.2:c.100T>C	NP_001306134.1:p.Cys34Arg
NM_001035256.3:c.100T>C	NP_001030333.1:p.Cys34Arg