Canonical Allele Identifier: CA767172320

Gene: POMC

Linked Data

• dbSNP Id: rs1273410334
• gnomAD v3: 2-25160913-G-C
• gnomAD v4: 2-25160913-G-C
• MyVariant Identifiers: chr2:g.25383782G>C (hg19) ; chr2:g.25160913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25160913G>C , CM000664.2:g.25160913G>C	GRCh38
NC_000002.11:g.25383782G>C , CM000664.1:g.25383782G>C	GRCh37
NC_000002.10:g.25237286G>C	NCBI36
NG_008997.1:g.12778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.*168C>G MANE Select	ENSP00000379170.2:n.*168C>G
ENST00000380794.5:c.*168C>G	ENSP00000370171.1:n.*168C>G
NM_000939.2:c.*168C>G	NP_000930.1:n.*168C>G
NM_001035256.1:c.*168C>G	NP_001030333.1:n.*168C>G
NM_000939.3:c.*168C>G	NP_000930.1:n.*168C>G
NM_001035256.2:c.*168C>G	NP_001030333.1:n.*168C>G
NM_001319204.1:c.*168C>G	NP_001306133.1:n.*168C>G
NM_001319205.1:c.*168C>G	NP_001306134.1:n.*168C>G
NM_000939.4:c.*168C>G MANE Select	NP_000930.1:n.*168C>G
NM_001319204.2:c.*168C>G	NP_001306133.1:n.*168C>G
NM_001319205.2:c.*168C>G	NP_001306134.1:n.*168C>G
NM_001035256.3:c.*168C>G	NP_001030333.1:n.*168C>G