Canonical Allele Identifier: CA15428503

Gene: MRS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24422315G>C , CM000668.2:g.24422315G>C	GRCh38
NC_000006.11:g.24422543G>C , CM000668.1:g.24422543G>C	GRCh37
NC_000006.10:g.24530522G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020662.4:c.1108-622G>C MANE Select	NP_065713.1:n.1108-622G>C
ENST00000378386.8:c.1108-622G>C MANE Select	ENSP00000367637.3:n.1108-622G>C
NM_001286264.1:c.1117-622G>C	NP_001273193.1:n.1117-622G>C
NM_001286264.2:c.1117-622G>C	NP_001273193.1:n.1117-622G>C
NM_001286265.1:c.1108-622G>C	NP_001273194.1:n.1108-622G>C
NM_001286265.2:c.1108-622G>C	NP_001273194.1:n.1108-622G>C
NM_001286266.1:c.958-622G>C	NP_001273195.1:n.958-622G>C
NM_001286266.2:c.958-622G>C	NP_001273195.1:n.958-622G>C
NM_020662.3:c.1108-622G>C	NP_065713.1:n.1108-622G>C
NR_104423.1:n.1190-622G>C
NR_104423.2:n.1162-622G>C
ENST00000274747.11:c.958-622G>C	ENSP00000274747.8:n.958-622G>C
ENST00000378353.5:c.1108-622G>C	ENSP00000367604.1:n.1108-622G>C
ENST00000378386.7:c.1108-622G>C	ENSP00000367637.3:n.1108-622G>C
ENST00000443868.6:c.1117-622G>C	ENSP00000399585.2:n.1117-622G>C
XM_005249242.1:c.1108-1269G>C	XP_005249299.1:n.1108-1269G>C
XM_005249242.2:c.1108-1269G>C	XP_005249299.1:n.1108-1269G>C
XR_001743533.2:n.1309-622G>C