Canonical Allele Identifier: CA8902445

Gene: MC2R

Linked Data

• dbSNP Id: rs770825788
• ExAC: 18:13884938 CAT / C
• gnomAD v2: 18-13884938-CAT-C
• gnomAD v4: 18-13884939-CAT-C
• MyVariant Identifiers: chr18:g.13884939_13884940del (hg19) ; chr18:g.13884940_13884941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884941_13884942del , CM000680.2:g.13884941_13884942del	GRCh38
NC_000018.9:g.13884940_13884941del , CM000680.1:g.13884940_13884941del	GRCh37
NC_000018.8:g.13874940_13874941del	NCBI36
NG_011819.1:g.35596_35597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.578_579del MANE Select	ENSP00000333821.2:p.Tyr193CysfsTer?
ENST00000327606.3:c.578_579del	ENSP00000333821.2:p.Tyr193CysfsTer?
NM_000529.2:c.578_579del MANE Select	NP_000520.1:p.Tyr193CysfsTer?
NM_001291911.1:c.578_579del	NP_001278840.1:p.Tyr193CysfsTer?
XM_017025781.1:c.578_579del	XP_016881270.1:p.Tyr193CysfsTer?