Canonical Allele Identifier: CA15427299

Gene: MRS2

Linked Data

• dbSNP Id: rs1056285
• gnomAD v2: 6-24420544-G-A
• gnomAD v3: 6-24420316-G-A
• gnomAD v4: 6-24420316-G-A
• MyVariant Identifiers: chr6:g.24420544G>A (hg19) ; chr6:g.24420316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24420316G>A , CM000668.2:g.24420316G>A	GRCh38
NC_000006.11:g.24420544G>A , CM000668.1:g.24420544G>A	GRCh37
NC_000006.10:g.24528523G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000378386.8:c.1107+1738G>A MANE Select	ENSP00000367637.3:n.1107+1738G>A
ENST00000274747.11:c.957+1738G>A	ENSP00000274747.8:n.957+1738G>A
ENST00000378353.5:c.1107+1738G>A	ENSP00000367604.1:n.1107+1738G>A
ENST00000378386.7:c.1107+1738G>A	ENSP00000367637.3:n.1107+1738G>A
ENST00000443868.6:c.1116+1738G>A	ENSP00000399585.2:n.1116+1738G>A
NM_001286264.1:c.1116+1738G>A	NP_001273193.1:n.1116+1738G>A
NM_001286265.1:c.1107+1738G>A	NP_001273194.1:n.1107+1738G>A
NM_001286266.1:c.957+1738G>A	NP_001273195.1:n.957+1738G>A
NM_020662.3:c.1107+1738G>A	NP_065713.1:n.1107+1738G>A
NR_104423.1:n.1189+1738G>A
XM_005249242.1:c.1107+1738G>A	XP_005249299.1:n.1107+1738G>A
XM_005249242.2:c.1107+1738G>A	XP_005249299.1:n.1107+1738G>A
XR_001743533.2:n.1308+1738G>A
NM_020662.4:c.1107+1738G>A MANE Select	NP_065713.1:n.1107+1738G>A
NR_104423.2:n.1161+1738G>A
NM_001286264.2:c.1116+1738G>A	NP_001273193.1:n.1116+1738G>A
NM_001286265.2:c.1107+1738G>A	NP_001273194.1:n.1107+1738G>A
NM_001286266.2:c.957+1738G>A	NP_001273195.1:n.957+1738G>A