Canonical Allele Identifier: CA394696572

Gene: PMM2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811116G>T , CM000678.2:g.8811116G>T	GRCh38
NC_000016.9:g.8904973G>T , CM000678.1:g.8904973G>T	GRCh37
NC_000016.8:g.8812474G>T	NCBI36
NG_009209.1:g.18304G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3553G>T
ENST00000682008.1:c.385G>T	ENSP00000507849.1:p.Val129Leu
ENST00000682393.1:c.*3G>T	ENSP00000506774.1:n.*3G>T
ENST00000683094.1:c.*70-522G>T	ENSP00000508230.1:n.*70-522G>T
ENST00000683274.1:c.348-522G>T	ENSP00000507262.1:n.348-522G>T
ENST00000683435.1:c.*344-522G>T	ENSP00000508092.1:n.*344-522G>T
ENST00000268261.9:c.385G>T MANE Select	ENSP00000268261.4:p.Val129Leu
ENST00000268261.8:c.385G>T	ENSP00000268261.4:p.Val129Leu
ENST00000562318.5:c.*107G>T	ENSP00000454395.1:n.*107G>T
ENST00000564069.1:c.356G>T
ENST00000565221.5:c.*3G>T	ENSP00000457932.1:n.*3G>T
ENST00000565896.5:c.*183G>T	ENSP00000456024.1:n.*183G>T
ENST00000566540.5:c.*70-522G>T	ENSP00000454284.1:n.*70-522G>T
ENST00000566604.5:c.348-522G>T	ENSP00000456774.1:n.348-522G>T
ENST00000566983.5:c.304G>T	ENSP00000457956.1:p.Val102Leu
ENST00000567697.1:n.3553G>T
ENST00000569958.5:c.179-526G>T	ENSP00000456302.1:n.179-526G>T
ENST00000570076.5:c.179-522G>T	ENSP00000456961.1:n.179-522G>T
ENST00000570134.5:c.*70-522G>T	ENSP00000456275.1:n.*70-522G>T
NM_000303.2:c.385G>T	NP_000294.1:p.Val129Leu
XM_005255372.3:c.385G>T	XP_005255429.1:p.Val129Leu
XM_005255373.3:c.136G>T	XP_005255430.1:p.Val46Leu
XM_005255374.3:c.136G>T	XP_005255431.1:p.Val46Leu
XM_011522538.1:c.385G>T	XP_011520840.1:p.Val129Leu
XM_011522539.1:c.10G>T	XP_011520841.1:p.Val4Leu
XM_005255374.4:c.136G>T	XP_005255431.1:p.Val46Leu
NM_000303.3:c.385G>T MANE Select	NP_000294.1:p.Val129Leu