Canonical Allele Identifier: CA164711021

Gene: IMMP2L

Linked Data

• dbSNP Id: rs12531640
• gnomAD v2: 7-110479535-G-T
• gnomAD v3: 7-110839479-G-T
• gnomAD v4: 7-110839479-G-T
• MyVariant Identifiers: chr7:g.110479535G>T (hg19) ; chr7:g.110839479G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.110839479G>T , CM000669.2:g.110839479G>T	GRCh38
NC_000007.13:g.110479535G>T , CM000669.1:g.110479535G>T	GRCh37
NC_000007.12:g.110266771G>T	NCBI36
NG_030016.1:g.728039C>A
NG_030016.2:g.728039C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405709.7:c.408+47114C>A MANE Select	ENSP00000384966.2:n.408+47114C>A
ENST00000331762.7:c.408+47114C>A	ENSP00000329553.3:n.408+47114C>A
ENST00000405709.6:c.408+47114C>A	ENSP00000384966.2:n.408+47114C>A
ENST00000450877.5:c.354+47114C>A	ENSP00000402824.1:n.354+47114C>A
ENST00000452895.5:c.408+47114C>A	ENSP00000399353.1:n.408+47114C>A
ENST00000487733.5:n.66+124021C>A
ENST00000489381.1:n.246+124021C>A
NM_001244606.1:c.408+47114C>A	NP_001231535.1:n.408+47114C>A
NM_032549.3:c.408+47114C>A	NP_115938.1:n.408+47114C>A
XM_005250630.3:c.408+47114C>A	XP_005250687.1:n.408+47114C>A
XM_011516604.1:c.409-3744C>A	XP_011514906.1:n.409-3744C>A
XM_011516605.1:c.492+47114C>A	XP_011514907.1:n.492+47114C>A
XM_011516606.1:c.493-3986C>A	XP_011514908.1:n.493-3986C>A
XM_011516608.1:c.492+47114C>A	XP_011514910.1:n.492+47114C>A
XM_011516609.1:c.389+124021C>A	XP_011514911.1:n.389+124021C>A
XM_011516613.1:c.305+124021C>A	XP_011514915.1:n.305+124021C>A
NM_001350959.1:c.408+47114C>A	NP_001337888.1:n.408+47114C>A
NM_001350960.1:c.408+47114C>A	NP_001337889.1:n.408+47114C>A
NM_001350961.1:c.492+47114C>A	NP_001337890.1:n.492+47114C>A
NM_001350963.1:c.305+124021C>A	NP_001337892.1:n.305+124021C>A
XM_011516608.2:c.492+47114C>A	XP_011514910.1:n.492+47114C>A
XM_011516609.2:c.389+124021C>A	XP_011514911.1:n.389+124021C>A
XM_017012699.1:c.493-3744C>A	XP_016868188.1:n.493-3744C>A
XM_017012700.1:c.493-3744C>A	XP_016868189.1:n.493-3744C>A
XM_017012701.1:c.409-3744C>A	XP_016868190.1:n.409-3744C>A
XM_017012702.1:c.409-3744C>A	XP_016868191.1:n.409-3744C>A
XM_017012704.1:c.492+47114C>A	XP_016868193.1:n.492+47114C>A
XM_024446956.1:c.285+47114C>A	XP_024302724.1:n.285+47114C>A
NM_001244606.2:c.408+47114C>A	NP_001231535.1:n.408+47114C>A
NM_001350959.2:c.408+47114C>A	NP_001337888.1:n.408+47114C>A
NM_001350960.2:c.408+47114C>A	NP_001337889.1:n.408+47114C>A
NM_001350961.2:c.492+47114C>A	NP_001337890.1:n.492+47114C>A
NM_001350963.2:c.305+124021C>A	NP_001337892.1:n.305+124021C>A
NM_032549.4:c.408+47114C>A MANE Select	NP_115938.1:n.408+47114C>A