Canonical Allele Identifier: CA394697828

Gene: PMM2

Linked Data

• dbSNP Id: rs906707531
• MyVariant Identifiers: chr16:g.8906891G>C (hg19) ; chr16:g.8813034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813034G>C , CM000678.2:g.8813034G>C	GRCh38
NC_000016.9:g.8906891G>C , CM000678.1:g.8906891G>C	GRCh37
NC_000016.8:g.8814392G>C	NCBI36
NG_009209.1:g.20222G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3735G>C
ENST00000682008.1:c.567G>C	ENSP00000507849.1:p.Lys189Asn
ENST00000682393.1:c.*185G>C	ENSP00000506774.1:n.*185G>C
ENST00000683094.1:c.*189G>C	ENSP00000508230.1:n.*189G>C
ENST00000683274.1:c.*107G>C	ENSP00000507262.1:n.*107G>C
ENST00000683435.1:c.*463G>C	ENSP00000508092.1:n.*463G>C
ENST00000268261.9:c.567G>C MANE Select	ENSP00000268261.4:p.Lys189Asn
ENST00000268261.8:c.567G>C	ENSP00000268261.4:p.Lys189Asn
ENST00000562318.5:c.*289G>C	ENSP00000454395.1:n.*289G>C
ENST00000564069.1:c.534G>C
ENST00000565221.5:c.*185G>C	ENSP00000457932.1:n.*185G>C
ENST00000566540.5:c.*189G>C	ENSP00000454284.1:n.*189G>C
ENST00000566604.5:c.*107G>C	ENSP00000456774.1:n.*107G>C
ENST00000566983.5:c.486G>C	ENSP00000457956.1:p.Lys162Asn
ENST00000567697.1:n.3735G>C
ENST00000569958.5:c.294G>C	ENSP00000456302.1:p.Lys98Asn
ENST00000570076.5:c.*25G>C	ENSP00000456961.1:n.*25G>C
ENST00000570134.5:c.*189G>C	ENSP00000456275.1:n.*189G>C
NM_000303.2:c.567G>C	NP_000294.1:p.Lys189Asn
XM_005255372.3:c.567G>C	XP_005255429.1:p.Lys189Asn
XM_005255373.3:c.318G>C	XP_005255430.1:p.Lys106Asn
XM_005255374.3:c.318G>C	XP_005255431.1:p.Lys106Asn
XM_011522538.1:c.567G>C	XP_011520840.1:p.Lys189Asn
XM_011522539.1:c.192G>C	XP_011520841.1:p.Lys64Asn
XM_005255374.4:c.318G>C	XP_005255431.1:p.Lys106Asn
NM_000303.3:c.567G>C MANE Select	NP_000294.1:p.Lys189Asn