Canonical Allele Identifier: CA10646284

Gene: POMT2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77275766A>G , CM000676.2:g.77275766A>G	GRCh38
NC_000014.8:g.77742109A>G , CM000676.1:g.77742109A>G	GRCh37
NC_000014.7:g.76811862A>G	NCBI36
NG_008897.1:g.50117T>C , LRG_844:g.50117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.*1610T>C	ENSP00000451967.2:n.*1610T>C
ENST00000682467.1:c.*1610T>C	ENSP00000508062.1:n.*1610T>C
ENST00000682897.1:c.1669+47T>C
ENST00000682955.1:n.3437T>C
ENST00000683380.1:n.3527T>C
ENST00000683784.1:c.1665+51T>C
ENST00000261534.9:c.*1610T>C MANE Select	ENSP00000261534.4:n.*1610T>C
ENST00000261534.8:c.*1610T>C	ENSP00000261534.4:n.*1610T>C
ENST00000452340.7:n.4839T>C
ENST00000554767.5:n.4649T>C
NM_013382.5:c.*1610T>C , LRG_844t1:c.*1610T>C	NP_037514.2:n.*1610T>C
XM_011536675.1:c.*1610T>C	XP_011534977.1:n.*1610T>C
XM_011536676.1:c.*1610T>C	XP_011534978.1:n.*1610T>C
XM_011536677.1:c.*1610T>C	XP_011534979.1:n.*1610T>C
XM_011536679.1:c.*1610T>C	XP_011534981.1:n.*1610T>C
XM_011536675.2:c.*1610T>C	XP_011534977.1:n.*1610T>C
XM_011536676.2:c.*1610T>C	XP_011534978.1:n.*1610T>C
XM_011536677.3:c.*1610T>C	XP_011534979.1:n.*1610T>C
XR_001750279.1:n.4149T>C
XR_001750282.1:n.4802T>C
XR_943416.3:n.4114T>C
NM_013382.6:c.*1610T>C	NP_037514.2:n.*1610T>C
NM_013382.7:c.*1610T>C MANE Select	NP_037514.2:n.*1610T>C