Canonical Allele Identifier: CA164708155

Gene: IMMP2L

Linked Data

• dbSNP Id: rs553983220
• gnomAD v2: 7-110467246-T-C
• gnomAD v3: 7-110827190-T-C
• gnomAD v4: 7-110827190-T-C
• MyVariant Identifiers: chr7:g.110467246T>C (hg19) ; chr7:g.110827190T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.110827190T>C , CM000669.2:g.110827190T>C	GRCh38
NC_000007.13:g.110467246T>C , CM000669.1:g.110467246T>C	GRCh37
NC_000007.12:g.110254482T>C	NCBI36
NG_030016.1:g.740328A>G
NG_030016.2:g.740328A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405709.7:c.408+59403A>G MANE Select	ENSP00000384966.2:n.408+59403A>G
ENST00000331762.7:c.408+59403A>G	ENSP00000329553.3:n.408+59403A>G
ENST00000405709.6:c.408+59403A>G	ENSP00000384966.2:n.408+59403A>G
ENST00000450877.5:c.354+59403A>G	ENSP00000402824.1:n.354+59403A>G
ENST00000452895.5:c.408+59403A>G	ENSP00000399353.1:n.408+59403A>G
ENST00000487733.5:n.66+136310A>G
ENST00000489381.1:n.246+136310A>G
NM_001244606.1:c.408+59403A>G	NP_001231535.1:n.408+59403A>G
NM_032549.3:c.408+59403A>G	NP_115938.1:n.408+59403A>G
XM_005250630.3:c.408+59403A>G	XP_005250687.1:n.408+59403A>G
XM_011516605.1:c.492+59403A>G	XP_011514907.1:n.492+59403A>G
XM_011516608.1:c.492+59403A>G	XP_011514910.1:n.492+59403A>G
XM_011516609.1:c.389+136310A>G	XP_011514911.1:n.389+136310A>G
XM_011516613.1:c.305+136310A>G	XP_011514915.1:n.305+136310A>G
NM_001350959.1:c.408+59403A>G	NP_001337888.1:n.408+59403A>G
NM_001350960.1:c.408+59403A>G	NP_001337889.1:n.408+59403A>G
NM_001350961.1:c.492+59403A>G	NP_001337890.1:n.492+59403A>G
NM_001350963.1:c.305+136310A>G	NP_001337892.1:n.305+136310A>G
XM_011516608.2:c.492+59403A>G	XP_011514910.1:n.492+59403A>G
XM_011516609.2:c.389+136310A>G	XP_011514911.1:n.389+136310A>G
XM_017012704.1:c.492+59403A>G	XP_016868193.1:n.492+59403A>G
XM_024446956.1:c.285+59403A>G	XP_024302724.1:n.285+59403A>G
NM_001244606.2:c.408+59403A>G	NP_001231535.1:n.408+59403A>G
NM_001350959.2:c.408+59403A>G	NP_001337888.1:n.408+59403A>G
NM_001350960.2:c.408+59403A>G	NP_001337889.1:n.408+59403A>G
NM_001350961.2:c.492+59403A>G	NP_001337890.1:n.492+59403A>G
NM_001350963.2:c.305+136310A>G	NP_001337892.1:n.305+136310A>G
NM_032549.4:c.408+59403A>G MANE Select	NP_115938.1:n.408+59403A>G