Canonical Allele Identifier: CA14619337

Gene: MC2R

Linked Data

• dbSNP Id: rs28926173
• gnomAD v2: 18-13886719-G-A
• gnomAD v3: 18-13886720-G-A
• gnomAD v4: 18-13886720-G-A
• MyVariant Identifiers: chr18:g.13886719G>A (hg19) ; chr18:g.13886720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13886720G>A , CM000680.2:g.13886720G>A	GRCh38
NC_000018.9:g.13886719G>A , CM000680.1:g.13886719G>A	GRCh37
NC_000018.8:g.13876719G>A	NCBI36
NG_011819.1:g.33817C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.-128-1074C>T MANE Select	ENSP00000333821.2:n.-128-1074C>T
ENST00000327606.3:c.-128-1074C>T	ENSP00000333821.2:n.-128-1074C>T
ENST00000399821.2:c.-128-1074C>T	ENSP00000382718.2:n.-128-1074C>T
NM_000529.2:c.-128-1074C>T MANE Select	NP_000520.1:n.-128-1074C>T
NM_001291911.1:c.-128-1074C>T	NP_001278840.1:n.-128-1074C>T
XM_017025781.1:c.-128-1074C>T	XP_016881270.1:n.-128-1074C>T