Canonical Allele Identifier: CA401994953

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13884965T>C (hg19) ; chr18:g.13884966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884966T>C , CM000680.2:g.13884966T>C	GRCh38
NC_000018.9:g.13884965T>C , CM000680.1:g.13884965T>C	GRCh37
NC_000018.8:g.13874965T>C	NCBI36
NG_011819.1:g.35571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.553A>G MANE Select	ENSP00000333821.2:p.Met185Val
ENST00000327606.3:c.553A>G	ENSP00000333821.2:p.Met185Val
NM_000529.2:c.553A>G MANE Select	NP_000520.1:p.Met185Val
NM_001291911.1:c.553A>G	NP_001278840.1:p.Met185Val
XM_017025781.1:c.553A>G	XP_016881270.1:p.Met185Val