Canonical Allele Identifier: CA7894171

Gene: PMM2

Linked Data

• dbSNP Id: rs764677000
• ExAC: 16:8941537 GAC / G
• gnomAD v2: 16-8941537-GAC-G
• gnomAD v3: 16-8847680-GAC-G
• gnomAD v4: 16-8847680-GAC-G
• MyVariant Identifiers: chr16:g.8941538_8941539del (hg19) ; chr16:g.8847681_8847682del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847682_8847683del , CM000678.2:g.8847682_8847683del	GRCh38
NC_000016.9:g.8941539_8941540del , CM000678.1:g.8941539_8941540del	GRCh37
NC_000016.8:g.8849040_8849041del	NCBI36
NG_009209.1:g.54870_54871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-42_3808-41del
ENST00000682393.1:c.*258-1687_*258-1686del	ENSP00000506774.1:n.*258-1687_*258-1686del
ENST00000683094.1:c.*262-1687_*262-1686del	ENSP00000508230.1:n.*262-1687_*262-1686del
ENST00000683274.1:c.*180-1687_*180-1686del	ENSP00000507262.1:n.*180-1687_*180-1686del
ENST00000683435.1:c.*536-42_*536-41del	ENSP00000508092.1:n.*536-42_*536-41del
ENST00000268261.9:c.640-42_640-41del MANE Select	ENSP00000268261.4:n.640-42_640-41del
ENST00000268261.8:c.640-42_640-41del	ENSP00000268261.4:n.640-42_640-41del
ENST00000562025.1:n.174-42_174-41del
ENST00000562318.5:c.*362-42_*362-41del	ENSP00000454395.1:n.*362-42_*362-41del
ENST00000565221.5:c.*258-42_*258-41del	ENSP00000457932.1:n.*258-42_*258-41del
ENST00000566540.5:c.*262-42_*262-41del	ENSP00000454284.1:n.*262-42_*262-41del
ENST00000566604.5:c.*180-42_*180-41del	ENSP00000456774.1:n.*180-42_*180-41del
ENST00000566983.5:c.559-42_559-41del	ENSP00000457956.1:n.559-42_559-41del
ENST00000567697.1:n.3808-42_3808-41del
ENST00000569958.5:c.367-42_367-41del	ENSP00000456302.1:n.367-42_367-41del
ENST00000570076.5:c.*98-42_*98-41del	ENSP00000456961.1:n.*98-42_*98-41del
NM_000303.2:c.640-42_640-41del	NP_000294.1:n.640-42_640-41del
XM_005255374.3:c.391-42_391-41del	XP_005255431.1:n.391-42_391-41del
XM_011522538.1:c.640-7352_640-7351del	XP_011520840.1:n.640-7352_640-7351del
XM_005255374.4:c.391-42_391-41del	XP_005255431.1:n.391-42_391-41del
NM_000303.3:c.640-42_640-41del MANE Select	NP_000294.1:n.640-42_640-41del