Canonical Allele Identifier: CA401995108
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13885008-G-T
MyVariant Identifiers: chr18:g.13885007G>T (hg19) chr18:g.13885008G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885008G>T , CM000680.2:g.13885008G>T GRCh38
NC_000018.9:g.13885007G>T , CM000680.1:g.13885007G>T GRCh37
NC_000018.8:g.13875007G>T NCBI36
NG_011819.1:g.35529C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.511C>A MANE Select ENSP00000333821.2:p.His171Asn
ENST00000327606.3:c.511C>A ENSP00000333821.2:p.His171Asn
NM_000529.2:c.511C>A MANE Select NP_000520.1:p.His171Asn
NM_001291911.1:c.511C>A NP_001278840.1:p.His171Asn
XM_017025781.1:c.511C>A XP_016881270.1:p.His171Asn
Search 100 bp 5'
Search 100 bp 3'