Canonical Allele Identifier: CA1555233

Gene: POMC

Linked Data

• ClinVar Variation Id: 1935298
• ClinVar RCV Id: RCV002638975
• dbSNP Id: rs778888319
• ExAC: 2:25384061 C / T
• gnomAD v2: 2-25384061-C-T
• gnomAD v3: 2-25161192-C-T
• gnomAD v4: 2-25161192-C-T
• COSMIC: COSM183924
• MyVariant Identifiers: chr2:g.25384061C>T (hg19) ; chr2:g.25161192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161192C>T , CM000664.2:g.25161192C>T	GRCh38
NC_000002.11:g.25384061C>T , CM000664.1:g.25384061C>T	GRCh37
NC_000002.10:g.25237565C>T	NCBI36
NG_008997.1:g.12499G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.693G>A MANE Select	ENSP00000379170.2:p.Pro231=
ENST00000264708.7:c.693G>A	ENSP00000264708.3:p.Pro231=
ENST00000380794.5:c.693G>A	ENSP00000370171.1:p.Pro231=
ENST00000395826.6:c.693G>A	ENSP00000379170.2:p.Pro231=
ENST00000405623.5:c.693G>A	ENSP00000384092.1:p.Pro231=
ENST00000449220.1:c.693G>A	ENSP00000387993.1:p.Pro231=
NM_000939.2:c.693G>A	NP_000930.1:p.Pro231=
NM_001035256.1:c.693G>A	NP_001030333.1:p.Pro231=
XM_011532917.1:c.693G>A	XP_011531219.1:p.Pro231=
NM_000939.3:c.693G>A	NP_000930.1:p.Pro231=
NM_001035256.2:c.693G>A	NP_001030333.1:p.Pro231=
NM_001319204.1:c.693G>A	NP_001306133.1:p.Pro231=
NM_001319205.1:c.693G>A	NP_001306134.1:p.Pro231=
NM_000939.4:c.693G>A MANE Select	NP_000930.1:p.Pro231=
NM_001319204.2:c.693G>A	NP_001306133.1:p.Pro231=
NM_001319205.2:c.693G>A	NP_001306134.1:p.Pro231=
NM_001035256.3:c.693G>A	NP_001030333.1:p.Pro231=