Canonical Allele Identifier: CA10646309

Gene: POMT2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77276771G>A , CM000676.2:g.77276771G>A	GRCh38
NC_000014.8:g.77743114G>A , CM000676.1:g.77743114G>A	GRCh37
NC_000014.7:g.76812867G>A	NCBI36
NG_008897.1:g.49112C>T , LRG_844:g.49112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.*605C>T	ENSP00000451967.2:n.*605C>T
ENST00000682467.1:c.*605C>T	ENSP00000508062.1:n.*605C>T
ENST00000682897.1:c.711C>T
ENST00000682955.1:n.2432C>T
ENST00000683380.1:n.2522C>T
ENST00000683784.1:c.711C>T
ENST00000261534.9:c.*605C>T MANE Select	ENSP00000261534.4:n.*605C>T
ENST00000261534.8:c.*605C>T	ENSP00000261534.4:n.*605C>T
ENST00000452340.7:n.3834C>T
ENST00000554767.5:n.3644C>T
NM_013382.5:c.*605C>T , LRG_844t1:c.*605C>T	NP_037514.2:n.*605C>T
XM_011536675.1:c.*605C>T	XP_011534977.1:n.*605C>T
XM_011536676.1:c.*605C>T	XP_011534978.1:n.*605C>T
XM_011536677.1:c.*605C>T	XP_011534979.1:n.*605C>T
XM_011536679.1:c.*605C>T	XP_011534981.1:n.*605C>T
XM_011536675.2:c.*605C>T	XP_011534977.1:n.*605C>T
XM_011536676.2:c.*605C>T	XP_011534978.1:n.*605C>T
XM_011536677.3:c.*605C>T	XP_011534979.1:n.*605C>T
XR_001750279.1:n.3144C>T
XR_001750282.1:n.3797C>T
XR_943416.3:n.3109C>T
NM_013382.6:c.*605C>T	NP_037514.2:n.*605C>T
NM_013382.7:c.*605C>T MANE Select	NP_037514.2:n.*605C>T