Canonical Allele Identifier: CA31413208

Gene: MPC2

Linked Data

• dbSNP Id: rs752185262
• MyVariant Identifiers: chr1:g.167903054_167903056del (hg19) ; chr1:g.167933816_167933818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167933819_167933821del , CM000663.2:g.167933819_167933821del	GRCh38
NC_000001.10:g.167903057_167903059del , CM000663.1:g.167903057_167903059del	GRCh37
NC_000001.9:g.166169681_166169683del	NCBI36
NG_053062.1:g.2581_2583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271373.9:c.109+1915_109+1917del MANE Select	ENSP00000271373.4:n.109+1915_109+1917del
ENST00000271373.8:c.109+1915_109+1917del	ENSP00000271373.4:n.109+1915_109+1917del
ENST00000367846.8:c.109+1915_109+1917del	ENSP00000356820.4:n.109+1915_109+1917del
ENST00000458574.1:c.109+1915_109+1917del	ENSP00000392874.1:n.109+1915_109+1917del
NM_001143674.3:c.109+1915_109+1917del	NP_001137146.1:n.109+1915_109+1917del
NM_015415.3:c.109+1915_109+1917del	NP_056230.1:n.109+1915_109+1917del
NR_026550.2:n.469+1915_469+1917del
XM_006711266.2:c.109+1915_109+1917del	XP_006711329.1:n.109+1915_109+1917del
XM_006711266.3:c.109+1915_109+1917del	XP_006711329.1:n.109+1915_109+1917del
NM_001143674.4:c.109+1915_109+1917del MANE Select	NP_001137146.1:n.109+1915_109+1917del
NR_026550.3:n.264+1915_264+1917del