Canonical Allele Identifier: CA254236

Gene: PMM2

Linked Data

• ClinVar Variation Id: 7725
• ClinVar RCV Id: RCV000008164
• dbSNP Id: rs104894534
• MyVariant Identifiers: chr16:g.8895720T>C (hg19) ; chr16:g.8801863T>C (hg38)
• PubMed: PMID:11156536 ; PMID:17307006 ; PMID:21541725 ; PMID:26014514

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8801863T>C , CM000678.2:g.8801863T>C	GRCh38
NC_000016.9:g.8895720T>C , CM000678.1:g.8895720T>C	GRCh37
NC_000016.8:g.8803221T>C	NCBI36
NG_009209.1:g.9051T>C
NG_033146.1:g.786A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.131T>C	ENSP00000507849.1:p.Val44Ala
ENST00000682393.1:c.131T>C	ENSP00000506774.1:p.Val44Ala
ENST00000683094.1:c.131T>C	ENSP00000508230.1:p.Val44Ala
ENST00000683274.1:c.131T>C	ENSP00000507262.1:p.Val44Ala
ENST00000683435.1:c.131T>C	ENSP00000508092.1:p.Val44Ala
ENST00000268261.9:c.131T>C MANE Select	ENSP00000268261.4:p.Val44Ala
ENST00000268261.8:c.131T>C	ENSP00000268261.4:p.Val44Ala
ENST00000562318.5:c.131T>C	ENSP00000454395.1:p.Val44Ala
ENST00000562448.1:n.172T>C
ENST00000564030.5:n.193T>C
ENST00000564069.1:c.102T>C
ENST00000565221.5:c.131T>C	ENSP00000457932.1:p.Val44Ala
ENST00000565896.5:c.131T>C	ENSP00000456024.1:p.Val44Ala
ENST00000566196.5:n.175T>C
ENST00000566540.5:c.131T>C	ENSP00000454284.1:p.Val44Ala
ENST00000566604.5:c.131T>C	ENSP00000456774.1:p.Val44Ala
ENST00000566983.5:c.50T>C	ENSP00000457956.1:p.Val17Ala
ENST00000568602.5:c.131T>C	ENSP00000455066.1:p.Val44Ala
ENST00000569958.5:c.131T>C	ENSP00000456302.1:p.Val44Ala
ENST00000570076.5:c.131T>C	ENSP00000456961.1:p.Val44Ala
ENST00000570134.5:c.131T>C	ENSP00000456275.1:p.Val44Ala
NM_000303.2:c.131T>C	NP_000294.1:p.Val44Ala
XM_005255372.3:c.131T>C	XP_005255429.1:p.Val44Ala
XM_005255373.3:c.-42T>C	XP_005255430.1:n.-42T>C
XM_005255374.3:c.-42T>C	XP_005255431.1:n.-42T>C
XM_011522538.1:c.131T>C	XP_011520840.1:p.Val44Ala
XM_011522539.1:c.-76T>C	XP_011520841.1:n.-76T>C
XM_005255374.4:c.-42T>C	XP_005255431.1:n.-42T>C
NM_000303.3:c.131T>C MANE Select	NP_000294.1:p.Val44Ala