Canonical Allele Identifier: CA236234130

Gene: CSRNP2 LETMD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51064533C>T , CM000674.2:g.51064533C>T	GRCh38
NC_000012.11:g.51458316C>T , CM000674.1:g.51458316C>T	GRCh37
NC_000012.10:g.49744583C>T	NCBI36
NG_029858.2:g.21314C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_030809.3:c.845G>A (CSRNP2) MANE Select	NP_110436.1:p.Arg282Gln
ENST00000228515.6:c.845G>A (CSRNP2) MANE Select	ENSP00000228515.1:p.Arg282Gln
NM_001351337.1:c.544-2729C>T (LETMD1)	NP_001338266.1:n.544-2729C>T
NM_001351337.2:c.544-2729C>T (LETMD1)	NP_001338266.1:n.544-2729C>T
NM_030809.2:c.845G>A (CSRNP2)	NP_110436.1:p.Arg282Gln
NR_045020.2:n.1800-2729C>T (LETMD1)
NR_045020.3:n.1772-2729C>T (LETMD1)
NR_045072.1:n.1357G>A (CSRNP2)
NR_045072.2:n.1299G>A (CSRNP2)
ENST00000228515.5:c.845G>A (CSRNP2)	ENSP00000228515.1:p.Arg282Gln
XM_006719621.2:c.845G>A (CSRNP2)	XP_006719684.1:p.Arg282Gln
XM_006719621.3:c.845G>A (CSRNP2)	XP_006719684.1:p.Arg282Gln
XM_006719622.2:c.*69G>A (CSRNP2)	XP_006719685.1:n.*69G>A
XM_011538163.1:c.937-2729C>T (LETMD1)	XP_011536465.1:n.937-2729C>T
XM_011538163.2:c.937-2729C>T (LETMD1)	XP_011536465.1:n.937-2729C>T
XM_017019991.2:c.128G>A (CSRNP2)	XP_016875480.1:p.Arg43Gln
XM_024449210.1:c.845G>A (CSRNP2)	XP_024304978.1:p.Arg282Gln
XM_024449211.1:c.845G>A (CSRNP2)	XP_024304979.1:p.Arg282Gln
XM_024449212.1:c.845G>A (CSRNP2)	XP_024304980.1:p.Arg282Gln
XM_024449213.1:c.845G>A (CSRNP2)	XP_024304981.1:p.Arg282Gln
XM_024449214.1:c.845G>A (CSRNP2)	XP_024304982.1:p.Arg282Gln
XM_024449215.1:c.845G>A (CSRNP2)	XP_024304983.1:p.Arg282Gln
XM_024449216.1:c.845G>A (CSRNP2)	XP_024304984.1:p.Arg282Gln