Canonical Allele Identifier: CA2641150599
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884371-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884372dup , CM000680.2:g.13884372dup GRCh38
NC_000018.9:g.13884371dup , CM000680.1:g.13884371dup GRCh37
NC_000018.8:g.13874371dup NCBI36
NG_011819.1:g.36165dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*253dup MANE Select ENSP00000333821.2:n.*253dup
ENST00000327606.3:c.*253dup ENSP00000333821.2:n.*253dup
NM_000529.2:c.*253dup MANE Select NP_000520.1:n.*253dup
NM_001291911.1:c.*253dup NP_001278840.1:n.*253dup
XM_017025781.1:c.*253dup XP_016881270.1:n.*253dup
Search 100 bp 5'
Search 100 bp 3'